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CACNA1B (calcium voltage-gated channel subunit alpha1 B)

Gene

774

Calcium voltage-gated channel subunit alpha1 B

CACNA1B

BIII, CACNL1A5, CACNN, Cav2.2, DYT23, NEDNEH

9q34.3

The protein encoded by this gene is the pore-forming subunit of an N-type voltage-dependent calcium channel, which controls neurotransmitter release from neurons. The encoded protein forms a complex with alpha-2, beta, and delta subunits to form the high-

Show/Hide all(4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1554738159	C>T	Pathogenic	Coding sequence variant, stop gained
rs1589093778	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1589095160	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1589112601	G>C	Pathogenic	Splice donor variant

Show/Hide all(408)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018028	hsa-miR-335-5p	Microarray	18185580
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT637821	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT637820	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT637821	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT637820	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT637821	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT637820	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT637821	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT637820	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT637819	hsa-miR-4504	HITS-CLIP	23824327
MIRT637818	hsa-miR-542-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT670802	hsa-miR-1914-5p	HITS-CLIP	23824327
MIRT637821	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT637820	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT637819	hsa-miR-4504	HITS-CLIP	23824327
MIRT637818	hsa-miR-542-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT649084	hsa-miR-3150b-3p	HITS-CLIP	23824327
MIRT649083	hsa-miR-4784	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT633850	hsa-miR-6844	HITS-CLIP	23824327
MIRT649082	hsa-miR-3915	HITS-CLIP	23824327
MIRT649081	hsa-miR-1224-5p	HITS-CLIP	23824327
MIRT649080	hsa-miR-4689	HITS-CLIP	23824327
MIRT649079	hsa-miR-6858-5p	HITS-CLIP	23824327
MIRT649078	hsa-miR-1304-5p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT649084	hsa-miR-3150b-3p	HITS-CLIP	23824327
MIRT649083	hsa-miR-4784	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT633850	hsa-miR-6844	HITS-CLIP	23824327
MIRT649082	hsa-miR-3915	HITS-CLIP	23824327
MIRT649081	hsa-miR-1224-5p	HITS-CLIP	23824327
MIRT649080	hsa-miR-4689	HITS-CLIP	23824327
MIRT649079	hsa-miR-6858-5p	HITS-CLIP	23824327
MIRT649078	hsa-miR-1304-5p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT637821	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT637820	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT637819	hsa-miR-4504	HITS-CLIP	23824327
MIRT637818	hsa-miR-542-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT633850	hsa-miR-6844	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT573131	hsa-miR-3186-3p	PAR-CLIP	20371350
MIRT573130	hsa-miR-5739	PAR-CLIP	20371350
MIRT573129	hsa-miR-3960	PAR-CLIP	20371350
MIRT573128	hsa-miR-8072	PAR-CLIP	20371350
MIRT573127	hsa-miR-25-5p	PAR-CLIP	20371350
MIRT649081	hsa-miR-1224-5p	HITS-CLIP	27418678
MIRT649081	hsa-miR-1224-5p	HITS-CLIP	27418678
MIRT649081	hsa-miR-1224-5p	HITS-CLIP	27418678
MIRT649081	hsa-miR-1224-5p	HITS-CLIP	27418678
MIRT649078	hsa-miR-1304-5p	HITS-CLIP	27418678
MIRT649078	hsa-miR-1304-5p	HITS-CLIP	27418678
MIRT649078	hsa-miR-1304-5p	HITS-CLIP	27418678
MIRT649078	hsa-miR-1304-5p	HITS-CLIP	27418678
MIRT649084	hsa-miR-3150b-3p	HITS-CLIP	27418678
MIRT649084	hsa-miR-3150b-3p	HITS-CLIP	27418678
MIRT649084	hsa-miR-3150b-3p	HITS-CLIP	27418678
MIRT649084	hsa-miR-3150b-3p	HITS-CLIP	27418678
MIRT611747	hsa-miR-377-3p	HITS-CLIP	27418678
MIRT611747	hsa-miR-377-3p	HITS-CLIP	27418678
MIRT611747	hsa-miR-377-3p	HITS-CLIP	27418678
MIRT611747	hsa-miR-377-3p	HITS-CLIP	27418678
MIRT649082	hsa-miR-3915	HITS-CLIP	27418678
MIRT649082	hsa-miR-3915	HITS-CLIP	27418678
MIRT649082	hsa-miR-3915	HITS-CLIP	27418678
MIRT649082	hsa-miR-3915	HITS-CLIP	27418678
MIRT649080	hsa-miR-4689	HITS-CLIP	27418678
MIRT649080	hsa-miR-4689	HITS-CLIP	27418678
MIRT649080	hsa-miR-4689	HITS-CLIP	27418678
MIRT649080	hsa-miR-4689	HITS-CLIP	27418678
MIRT649083	hsa-miR-4784	HITS-CLIP	27418678
MIRT649083	hsa-miR-4784	HITS-CLIP	27418678
MIRT649083	hsa-miR-4784	HITS-CLIP	27418678
MIRT649083	hsa-miR-4784	HITS-CLIP	27418678
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	27418678
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	27418678
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	27418678
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	27418678
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	27418678
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	27418678
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	27418678
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	27418678
MIRT633850	hsa-miR-6844	HITS-CLIP	27418678
MIRT633850	hsa-miR-6844	HITS-CLIP	27418678
MIRT633850	hsa-miR-6844	HITS-CLIP	27418678
MIRT633850	hsa-miR-6844	HITS-CLIP	27418678
MIRT649079	hsa-miR-6858-5p	HITS-CLIP	27418678
MIRT649079	hsa-miR-6858-5p	HITS-CLIP	27418678
MIRT649079	hsa-miR-6858-5p	HITS-CLIP	27418678
MIRT649079	hsa-miR-6858-5p	HITS-CLIP	27418678
MIRT611750	hsa-miR-8485	HITS-CLIP	27418678
MIRT611750	hsa-miR-8485	HITS-CLIP	27418678
MIRT611750	hsa-miR-8485	HITS-CLIP	27418678
MIRT611750	hsa-miR-8485	HITS-CLIP	27418678
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT637821	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT637820	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT637821	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT637820	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT637821	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT637820	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT637821	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT637820	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT637819	hsa-miR-4504	HITS-CLIP	23824327
MIRT637818	hsa-miR-542-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT670802	hsa-miR-1914-5p	HITS-CLIP	23824327
MIRT637821	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT637820	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT637819	hsa-miR-4504	HITS-CLIP	23824327
MIRT637818	hsa-miR-542-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT649084	hsa-miR-3150b-3p	HITS-CLIP	23824327
MIRT649083	hsa-miR-4784	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT633850	hsa-miR-6844	HITS-CLIP	23824327
MIRT649082	hsa-miR-3915	HITS-CLIP	23824327
MIRT649081	hsa-miR-1224-5p	HITS-CLIP	23824327
MIRT649080	hsa-miR-4689	HITS-CLIP	23824327
MIRT649079	hsa-miR-6858-5p	HITS-CLIP	23824327
MIRT649078	hsa-miR-1304-5p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT649084	hsa-miR-3150b-3p	HITS-CLIP	23824327
MIRT649083	hsa-miR-4784	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT633850	hsa-miR-6844	HITS-CLIP	23824327
MIRT649082	hsa-miR-3915	HITS-CLIP	23824327
MIRT649081	hsa-miR-1224-5p	HITS-CLIP	23824327
MIRT649080	hsa-miR-4689	HITS-CLIP	23824327
MIRT649079	hsa-miR-6858-5p	HITS-CLIP	23824327
MIRT649078	hsa-miR-1304-5p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT637821	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT637820	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT637819	hsa-miR-4504	HITS-CLIP	23824327
MIRT637818	hsa-miR-542-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT633850	hsa-miR-6844	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT573131	hsa-miR-3186-3p	PAR-CLIP	20371350
MIRT573130	hsa-miR-5739	PAR-CLIP	20371350
MIRT573129	hsa-miR-3960	PAR-CLIP	20371350
MIRT573128	hsa-miR-8072	PAR-CLIP	20371350
MIRT573127	hsa-miR-25-5p	PAR-CLIP	20371350
MIRT857418	hsa-miR-1207-5p	CLIP-seq
MIRT857419	hsa-miR-1237	CLIP-seq
MIRT857420	hsa-miR-1248	CLIP-seq
MIRT857421	hsa-miR-1255a	CLIP-seq
MIRT857422	hsa-miR-1255b	CLIP-seq
MIRT857423	hsa-miR-1262	CLIP-seq
MIRT857424	hsa-miR-129-5p	CLIP-seq
MIRT857425	hsa-miR-1343	CLIP-seq
MIRT857426	hsa-miR-146b-3p	CLIP-seq
MIRT857427	hsa-miR-1913	CLIP-seq
MIRT857428	hsa-miR-3127-3p	CLIP-seq
MIRT857429	hsa-miR-3136-5p	CLIP-seq
MIRT857430	hsa-miR-3157-5p	CLIP-seq
MIRT857431	hsa-miR-3166	CLIP-seq
MIRT857432	hsa-miR-3170	CLIP-seq
MIRT857433	hsa-miR-3173-5p	CLIP-seq
MIRT857434	hsa-miR-3180-5p	CLIP-seq
MIRT857435	hsa-miR-3189-3p	CLIP-seq
MIRT857436	hsa-miR-324-3p	CLIP-seq
MIRT857437	hsa-miR-339-5p	CLIP-seq
MIRT857438	hsa-miR-3614-5p	CLIP-seq
MIRT857439	hsa-miR-3677-3p	CLIP-seq
MIRT857440	hsa-miR-3679-3p	CLIP-seq
MIRT857441	hsa-miR-3682-3p	CLIP-seq
MIRT857442	hsa-miR-3691-5p	CLIP-seq
MIRT857443	hsa-miR-3911	CLIP-seq
MIRT857444	hsa-miR-3978	CLIP-seq
MIRT857445	hsa-miR-4261	CLIP-seq
MIRT857446	hsa-miR-4436b-5p	CLIP-seq
MIRT857447	hsa-miR-4439	CLIP-seq
MIRT857448	hsa-miR-4636	CLIP-seq
MIRT857449	hsa-miR-4639-5p	CLIP-seq
MIRT857450	hsa-miR-4691-3p	CLIP-seq
MIRT857451	hsa-miR-4701-3p	CLIP-seq
MIRT857452	hsa-miR-4722-5p	CLIP-seq
MIRT857453	hsa-miR-4732-3p	CLIP-seq
MIRT857454	hsa-miR-4736	CLIP-seq
MIRT857455	hsa-miR-4752	CLIP-seq
MIRT857456	hsa-miR-4758-3p	CLIP-seq
MIRT857457	hsa-miR-4763-3p	CLIP-seq
MIRT857458	hsa-miR-4771	CLIP-seq
MIRT857459	hsa-miR-4779	CLIP-seq
MIRT857460	hsa-miR-499-3p	CLIP-seq
MIRT857461	hsa-miR-518d-5p	CLIP-seq
MIRT857462	hsa-miR-519b-5p	CLIP-seq
MIRT857463	hsa-miR-519c-5p	CLIP-seq
MIRT857464	hsa-miR-520a-5p	CLIP-seq
MIRT857465	hsa-miR-520c-5p	CLIP-seq
MIRT857466	hsa-miR-525-5p	CLIP-seq
MIRT857467	hsa-miR-526a	CLIP-seq
MIRT857468	hsa-miR-548a-3p	CLIP-seq
MIRT857469	hsa-miR-548e	CLIP-seq
MIRT857470	hsa-miR-548f	CLIP-seq
MIRT857471	hsa-miR-549	CLIP-seq
MIRT857472	hsa-miR-561	CLIP-seq
MIRT857473	hsa-miR-583	CLIP-seq
MIRT857474	hsa-miR-642b	CLIP-seq
MIRT857475	hsa-miR-765	CLIP-seq
MIRT857476	hsa-miR-874	CLIP-seq
MIRT857477	hsa-miR-922	CLIP-seq
MIRT857478	hsa-miR-943	CLIP-seq
MIRT857419	hsa-miR-1237	CLIP-seq
MIRT857420	hsa-miR-1248	CLIP-seq
MIRT1954666	hsa-miR-1914	CLIP-seq
MIRT1954667	hsa-miR-198	CLIP-seq
MIRT857437	hsa-miR-339-5p	CLIP-seq
MIRT857439	hsa-miR-3677-3p	CLIP-seq
MIRT1954668	hsa-miR-3689a-3p	CLIP-seq
MIRT1954669	hsa-miR-3689c	CLIP-seq
MIRT1954670	hsa-miR-4685-5p	CLIP-seq
MIRT1954671	hsa-miR-4703-3p	CLIP-seq
MIRT1954672	hsa-miR-4728-5p	CLIP-seq
MIRT857474	hsa-miR-642b	CLIP-seq
MIRT857475	hsa-miR-765	CLIP-seq
MIRT2192265	hsa-miR-1228	CLIP-seq
MIRT2192266	hsa-miR-128	CLIP-seq
MIRT2192267	hsa-miR-140-3p	CLIP-seq
MIRT2192268	hsa-miR-3120-3p	CLIP-seq
MIRT857437	hsa-miR-339-5p	CLIP-seq
MIRT857440	hsa-miR-3679-3p	CLIP-seq
MIRT2192269	hsa-miR-377	CLIP-seq
MIRT2192270	hsa-miR-451b	CLIP-seq
MIRT1954671	hsa-miR-4703-3p	CLIP-seq
MIRT857460	hsa-miR-499-3p	CLIP-seq
MIRT857474	hsa-miR-642b	CLIP-seq

Show/Hide all(18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001540	Function	Amyloid-beta binding	IC	23376566
GO:0005245	Function	Voltage-gated calcium channel activity	IBA	21873635
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	11438518, 15728831, 20195357
GO:0005524	Function	ATP binding	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005891	Component	Voltage-gated calcium channel complex	IEA
GO:0006816	Process	Calcium ion transport	IBA	21873635
GO:0007268	Process	Chemical synaptic transmission	IBA	21873635
GO:0008022	Function	Protein C-terminus binding	IPI	15728831
GO:0008331	Function	High voltage-gated calcium channel activity	IMP	23376566
GO:0034765	Process	Regulation of ion transmembrane transport	IEA
GO:0045202	Component	Synapse	IEA
GO:0050804	Process	Modulation of chemical synaptic transmission	IDA	23376566
GO:0051899	Process	Membrane depolarization	TAS
GO:0070509	Process	Calcium ion import	IBA	21873635
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:1904645	Process	Response to amyloid-beta	IDA	23376566

MIM	HGNC	e!Ensembl
601012	1389	ENSG00000148408

Protein

UniProt ID

Q00975

Protein name

Voltage-dependent N-type calcium channel subunit alpha-1B (Brain calcium channel III) (BIII) (Calcium channel, L type, alpha-1 polypeptide isoform 5) (Voltage-gated calcium channel subunit alpha Cav2.2)

Protein function

Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expressio

PDB

2LCM , 7MIX , 7MIY , 7VFS , 7VFU , 7VFV , 7VFW

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00520	Ion_trans	94 → 367	Ion transport protein	Family
PF00520	Ion_trans	481 → 720	Ion transport protein	Family
PF00520	Ion_trans	1149 → 1427	Ion transport protein	Family
PF00520	Ion_trans	1470 → 1719	Ion transport protein	Family
PF16905	GPHH	1728 → 1781	Voltage-dependent L-type calcium channel, IQ-associated	Family
PF08763	Ca_chan_IQ	1792 → 1869	Voltage gated calcium channel IQ domain	Domain

Sequence

MVRFGDELGGRYGGPGGGERARGGGAGGAGGPGPGGLQPGQRVLYKQSIAQRARTMALYN
PIPVKQNCFTVNRSLFVFSEDNVVRKYAKRITEWPPFEYMILATIIANCIVLALEQHLPD
GDKTPMSERLDDTEPYFIGIFCFEAGIKIIALGFVFHKGSYLRNGWNVMDFVVVLTGILA
TAGTDFDLRTLRAVRVLRPLKLVSGIPSLQVVLKSIMKAMVPLLQIGLLLFFAILMFAII
GLEFYMGKFHKACFPNSTDAEPVGDFPCGKEAPARLCEGDTECREYWPGPNFGITNFDNI
LFAILTVFQCITMEGWTDILYNTNDAAGNTWNWLYFIPLIIIGSFFMLNLVLGVLSGEFA
KERERVENRRAFLKLRRQQQIERELNGYLEWIFKAEEVMLAEEDRNAEEKSPLDVLKRAA
TKKSRNDLIHAEEGEDRFADLCAVGSPFARASLKSGKTESSSYFRRKEKMFRFFIRRMVK
AQSFYWVVLCVVALNTLCVAMVHYNQPRRLTTTLYFAEFVFLGLFLTEMSLKMYGLGPRS
YFRSSFNCFDFGVIVGSVFEVVWAAIKPGSSFGISVLRALRLLRIFKVTKYWSSLRNLVV
SLLNSMKSIISLLFLLFLFIVVFALLGMQLFGGQFNFQDETPTTNFDTFPAAILTVFQIL
TGEDWNAVMYHGIESQGGVSKGMFSSFYFIVLTLFGNYTLLNVFLAIAVDNLANAQELTK
DEEEMEEAANQKLALQKAKEVAEVSPMSAANISIAARQQNSAKARSVWEQRASQLRLQNL
RASCEALYSEMDPEERLRFATTRHLRPDMKTHLDRPLVVELGRDGARGPVGGKARPEAAE
APEGVDPPRRHHRHRDKDKTPAAGDQDRAEAPKAESGEPGAREERPRPHRSHSKEAAGPP
EARSERGRGPGPEGGRRHHRRGSPEEAAEREPRRHRAHRHQDPSKECAGAKGERRARHRG
GPRAGPREAESGEEPARRHRARHKAQPAHEAVEKETTEKEATEKEAEIVEADKEKELRNH
QPREPHCDLETSGTVTVGPMHTLPSTCLQKVEEQPEDADNQRNVTRMGSQPPDPNTIVHI
PVMLTGPLGEATVVPSGNVDLESQAEGKKEVEADDVMRSGPRPIVPYSSMFCLSPTNLLR
RFCHYIVTMRYFEVVILVVIALSSIALAAEDPVRTDSPRNNALKYLDYIFTGVFTFEMVI
KMIDLGLLLHPGAYFRDLWNILDFIVVSGALVAFAFSGSKGKDINTIKSLRVLRVLRPLK
TIKRLPKLKAVFDCVVNSLKNVLNILIVYMLFMFIFAVIAVQLFKGKFFYCTDESKELER
DCRGQYLDYEKEEVEAQPRQWKKYDFHYDNVLWALLTLFTVSTGEGWPMVLKHSVDATYE
EQGPSPGYRMELSIFYVVYFVVFPFFFVNIFVALIIITFQEQGDKVMSECSLEKNERACI
DFAISAKPLTRYMPQNRQSFQYKTWTFVVSPPFEYFIMAMIALNTVVLMMKFYDAPYEYE
LMLKCLNIVFTSMFSMECVLKIIAFGVLNYFRDAWNVFDFVTVLGSITDILVTEIAETNN
FINLSFLRLFRAARLIKLLRQGYTIRILLWTFVQSFKALPYVCLLIAMLFFIYAIIGMQV
FGNIALDDDTSINRHNNFRTFLQALMLLFRSATGEAWHEIMLSCLSNQACDEQANATECG
SDFAYFYFVSFIFLCSFLMLNLFVAVIMDNFEYLTRDSSILGPHHLDEFIRVWAEYDPAA
CGRISYNDMFEMLKHMSPPLGLGKKCPARVAYKRLVRMNMPISNEDMTVHFTSTLMALIR
TALEIKLAPAGTKQHQCDAELRKEISVVWANLPQKTLDLLVPPHKPDEMTVGKVYAALMI
FDFYKQNKTTRDQMQQAPGGLSQMGPVSLFHPLKATLEQTQPAVLRGARVFLRQKSSTSL
SNGGAIQNQESGIKESVSWGTQRTQDAPHEARPPLERGHSTEIPVGRSGALAVDVQMQSI
TRRGPDGEPQPGLESQGRAASMPRLAAETQPVTDASPMKRSISTLAQRPRGTHLCSTTPD
RPPPSQASSHHHHHRCHRRRDRKQRSLEKGPSLSADMDGAPSSAVGPGLPPGEGPTGCRR
ERERRQERGRSQERRQPSSSSSEKQRFYSCDRFGGREPPKPKPSLSSHPTSPTAGQEPGP
HPQGSGSVNGSPLLSTSGASTPGRGGRRQLPQTPLTPRPSITYKTANSSPIHFAGAQTSL
PAFSPGRLSRGLSEHNALLQRDPLSQPLAPGSRIGSDPYLGQRLDSEASVHALPEDTLTF
EEAVATNSGRSSRTSYVSSLTSQSHPLRRVPNGYHCTLGLSSGGRARHSYHHPDQDHWC

Sequence length

2339

Interactions

View interactions

	KEGG		Reactome
	MAPK signaling pathway Calcium signaling pathway Synaptic vesicle cycle Retrograde endocannabinoid signaling Cholinergic synapse Serotonergic synapse GABAergic synapse Dopaminergic synapse Type II diabetes mellitus Huntington disease Prion disease Pathways of neurodegeneration - multiple diseases Morphine addiction Nicotine addiction Chemical carcinogenesis - receptor activation		Presynaptic depolarization and calcium channel opening

Associated diseases

Show/Hide Causal Diseases (11)

Causal
Disease name	Disease term	dbSNP ID	References
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs120074176, rs786205019
Autism	Autistic Disorder	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074	30982612, 25296916
Developmental regression	Developmental regression	rs1224421127	25296916, 30982612
Epileptic encephalopathy	Encephalopathies, Epileptic encephalopathy	rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625, rs121918626, rs121918629, rs121918632, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192242, rs118192185, rs118192188, rs118192246, rs118192186, rs118192194, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192215, rs118192216, rs118192239, rs397514458, rs387906686, rs202151337, rs121917957, rs121917929, rs121917927, rs121917966, rs121917941, rs121917964, rs121917943, rs121917965, rs121917918, rs121917963, rs121917911, rs121917912, rs121917986, rs121917987, rs121917913, rs121917945, rs121917996, rs121917975, rs121917919, rs121917993, rs121917915, rs121917995, rs121917976, rs121917994, rs121917926, rs121917951, rs121917952, rs121917980, rs121917921, rs121917935, rs121917936, rs121917984, rs121917937, rs121917985, rs121917938, rs121917928, rs121918753, rs121918781, rs121918782, rs121918784, rs121918734, rs121918788, rs121917969, rs121918775, rs121918786, rs121918796, rs121918745, rs121918740, rs121918741, rs121918789, rs121918742, rs121918791, rs121918811, rs121917922, rs121918744, rs121918778, rs121918767, rs121918779, rs121918770, rs121918783, rs121918773, rs121918793, rs267606051, rs398123585, rs398123588, rs398123593, rs587777164, rs587777219, rs587777310, rs587780446, rs587777492, rs587777495, rs587777577, rs267608501, rs587777721, rs587783192, rs587783200, rs104894745, rs587784453, rs587784454, rs587784438, rs587784440, rs727504136, rs727503974, rs727504140, rs727504173, rs201497300, rs786204967, rs794726739, rs794726845, rs779614747, rs794726726, rs794726763, rs794726754, rs794726760, rs794726759, rs199727342, rs794726800, rs794726752, rs794726825, rs794726809, rs794726696, rs794726699, rs794726705, rs794726784, rs794726779, rs794726821, rs146878122, rs794726816, rs794726744, rs794726854, rs794726710, rs794726733, rs542420576, rs794726772, rs794726842, rs794726718, rs794726761, rs794726697, rs794726775, rs397514459, rs767045134, rs794726766, rs794726742, rs794726730, rs794726778, rs794726736, rs794726773, rs794726790, rs794726826, rs794726753, rs794726799, rs794726844, rs794726782, rs794726798, rs794726824, rs794726827, rs794726803, rs794726711, rs794726762, rs786205598, rs863223345, rs794727128, rs794727337, rs794727361, rs794727444, rs794727740, rs794727792, rs794727970, rs863225068, rs796053181, rs796053130, rs796053048, rs796053086, rs796053103, rs796053043, rs796053085, rs796053035, rs796053031, rs796053029, rs796053022, rs139300715, rs796053014, rs1553522472, rs796053010, rs121917908, rs796053008, rs794726789, rs796053004, rs796053072, rs796052995, rs796053067, rs796052990, rs796052987, rs796052985, rs796053065, rs1553543316, rs796053064, rs796052977, rs796052976, rs796052973, rs796052972, rs781746113, rs796052960, rs796052959, rs796053054, rs1553551312, rs796052953, rs758871507, rs796053350, rs1554776228, rs796053352, rs796053390, rs796053353, rs796053359, rs796053361, rs796053366, rs796053367, rs796053370, rs796053368, rs796053373, rs796053376, rs796053377, rs1554768992, rs796053335, rs796053233, rs796053214, rs796053216, rs796053224, rs796053228, rs796053229, rs796052658, rs796052670, rs796052654, rs796052653, rs796052652, rs773171451, rs1555853593, rs759584387, rs796052650, rs118192233, rs796052657, rs796052644, rs796052645, rs796052641, rs796052640, rs775918190, rs796052636, rs796052626, rs796052623, rs796052621, rs796052620, rs796052618, rs796052617, rs796052663, rs797044983, rs797045013, rs797044878, rs797044951, rs797044873, rs797044938, rs797045969, rs118192212, rs863225037, rs863225036, rs863225030, rs863225031, rs864321707, rs864321712, rs869312684, rs869312920, rs869312939, rs878853250, rs878854263, rs878854262, rs751170778, rs878854974, rs878855236, rs1555794286, rs879255652, rs879255695, rs879255697, rs879255704, rs879255705, rs879255709, rs879255710, rs886039323, rs886039435, rs886039494, rs886039903, rs1135401734, rs1135401733, rs1135401732, rs886042004, rs886041716, rs886041961, rs886041668, rs886041246, rs886041339, rs886041766, rs886041262, rs886041715, rs886042528, rs886042605, rs886063501, rs1555850151, rs1057516123, rs1555853971, rs1057516115, rs1057516106, rs1057516105, rs1057516099, rs1057516098, rs1057516094, rs1057516089, rs1057516086, rs1057516085, rs1057516080, rs1057516079, rs1057516076, rs1057518325, rs1057517862, rs1057517849, rs1057518243, rs1057518258, rs1057517958, rs121917974, rs1057517959, rs796053374, rs1057517919, rs1057518489, rs1057518801, rs1057518816, rs759766243, rs1057518795, rs1057518985, rs1057519000, rs1057519269, rs1057519270, rs1057519452, rs375659415, rs1057519501, rs1057519528, rs1057519526, rs1057519527, rs1057519524, rs796053083, rs1057519529, rs1057519531, rs1057519547, rs1057519548, rs1057519545, rs1057519538, rs1057519539, rs1057519537, rs1057519540, rs1057519549, rs1057519550, rs1057519535, rs1057519536, rs1057519542, rs778291283, rs1057520486, rs794726765, rs750209664, rs121917753, rs1057521746, rs1057523858, rs1057520753, rs1057520413, rs1057521080, rs1057524599, rs778481061, rs768633670, rs796052655, rs1060502190, rs1060502183, rs121918780, rs1060502185, rs1057521537, rs1060502187, rs121918765, rs1060502182, rs121917981, rs1060502188, rs1060502189, rs1060503108, rs1060501724, rs1060501722, rs1060501723, rs1060501012, rs1060504137, rs1060500603, rs1060500602, rs1060499592, rs796053138, rs1064795579, rs1553520298, rs121918805, rs1064795733, rs1064796177, rs1064795735, rs1064794634, rs1064796384, rs1064796213, rs1064793923, rs1064794727, rs1064794533, rs1064795384, rs1555850842, rs1064794001, rs1064796151, rs1064795435, rs1064797284, rs1085307930, rs1085307730, rs1085307916, rs1085307876, rs1085307920, rs1131691773, rs1131691774, rs1131691675, rs1131691775, rs1131691693, rs1131691465, rs1131691830, rs1131691936, rs1057523728, rs1199412903, rs1555228303, rs1555507477, rs1554965669, rs1555499800, rs1553923787, rs922847767, rs368609628, rs1553286282, rs1266877537, rs794726749, rs1553551425, rs1553552390, rs1554778657, rs1555889130, rs1555881741, rs1553520320, rs1553522517, rs796053006, rs1553534296, rs1553541028, rs1553544579, rs1553551385, rs1553520380, rs1553525210, rs1553541473, rs761333438, rs1553520982, rs1553522321, rs1553520318, rs1553540503, rs1553540389, rs1553542199, rs1553543215, rs1553541172, rs1553549483, rs750901301, rs794726743, rs1553545660, rs1553561023, rs1553548096, rs1553552319, rs1553560760, rs1554037381, rs1554776948, rs1554778417, rs1057522982, rs1555219147, rs1555218657, rs1555850590, rs1555869758, rs1555873823, rs1553525325, rs794727813, rs1555228771, rs1553520530, rs1555870346, rs1555955296, rs1553551493, rs1555546796, rs1555870554, rs1555871832, rs77216276, rs1554689320, rs1554777496, rs1555881809, rs1553529461, rs12131800, rs1553517274, rs1555889127, rs1555951141, rs1553590192, rs1553531178, rs1555870470, rs927722314, rs1553523142, rs1041924436, rs1553544559, rs1553544821, rs1553520319, rs1553560677, rs1553521567, rs1553522331, rs1553519872, rs1553529426, rs1553519902, rs1553520029, rs1553545522, rs1553520439, rs146515561, rs1553549461, rs1553549834, rs1553546789, rs1553553614, rs1553560676, rs1553520227, rs1553524865, rs1553525036, rs1553560740, rs1553561016, rs1193718145, rs1554769099, rs936639741, rs1352024223, rs758779535, rs1555870506, rs747376305, rs1555869700, rs1555873656, rs1555873981, rs536000212, rs959316981, rs1554777470, rs1555889108, rs1559144583, rs1569219844, rs1564346538, rs1562159088, rs1559101839, rs1559114303, rs1559140110, rs1559140306, rs1043031572, rs121918756, rs1559199628, rs1559200672, rs796053095, rs1559210063, rs1559225495, rs1553549471, rs1559103294, rs1559105368, rs121918764, rs1559114837, rs1559122124, rs1559127505, rs1559128532, rs1559140855, rs1559149128, rs1559217391, rs1559220874, rs794726695, rs1559249734, rs1553553527, rs1559101585, rs1559110846, rs1559193050, rs1559216338, rs1559231284, rs148442069, rs1559105301, rs1559114202, rs121917954, rs1559195296, rs1553546763, rs1559238432, rs1559884460, rs1559887808, rs1564352002, rs1564349850, rs1564351103, rs1565933795, rs1565886685, rs1555228668, rs587777723, rs1564333757, rs375363057, rs1568932480, rs1568925719, rs770187706, rs1568864658, rs1568899375, rs118192209, rs1568932462, rs1568927747, rs1057518555, rs1559119345, rs1085307520, rs1559200901, rs970867558, rs1568940442, rs775162839, rs1568986619, rs1558308998, rs1553546668, rs1569017015, rs1569017045, rs1569017073, rs1555889090, rs1569017143, rs1569017148, rs1569017205, rs1179351306, rs1569017257, rs1569017337, rs1555889162, rs1568658507, rs1485894376, rs1561139569, rs1574716488, rs1553519865, rs1573946994, rs1573948129, rs121918812, rs1573950349, rs1573952908, rs1573964264, rs1573964628, rs372425457, rs1573984004, rs1574004452, rs1574005235, rs1574006637, rs1574006857, rs1574039742, rs121918801, rs1574051496, rs1574051665, rs1574060250, rs1574060717, rs1574169179, rs1574170908, rs121918774, rs1574192005, rs1574192998, rs1574201591, rs1574216450, rs1574223964, rs1574224274, rs1574225593, rs748267258, rs1553547380, rs1574263819, rs1574265144, rs762927460, rs1574266490, rs1574271827, rs1574302195, rs1574371399, rs1575603683, rs763339068, rs1588313568, rs1589416130, rs1592380672, rs1592148206, rs1592149793, rs1592149906, rs1592162415, rs1592162506, rs1596787821, rs1600755607, rs1600755429, rs1600731888, rs1601573302, rs1601566621, rs1601542702, rs1601542417, rs1600886270, rs1600766500, rs1574370981, rs1573962555, rs1574068971, rs1057524737, rs1574263047, rs1575601202, rs1554777464, rs1589393179, rs1597696047, rs1247507359, rs752927520, rs1473654961, rs1592380834, rs796053036, rs1573953706, rs1573973548, rs1573984110, rs1574007140, rs1574166948, rs745378416, rs1574209023, rs796053094, rs1574264920, rs1600714727, rs755159935, rs1574281711, rs779324355, rs1053767552, rs201894374, rs770456604, rs113094436, rs1578264574, rs1260191836, rs1578265048, rs1578265068, rs1578269200, rs1186496501, rs1578269761, rs756467468, rs1381665298, rs1578270476, rs1578274054, rs769243823, rs200059198, rs749975104, rs1578282133, rs1306655122, rs1600785769, rs1580990072, rs1584399108, rs1057519189, rs1595440453, rs1596872804, rs1597653264, rs1597676610, rs1599719527, rs1600755440, rs1600786071, rs770904422, rs1574525321, rs1840653547, rs749965674, rs1841611651, rs1841766225, rs1852152679, rs1853919580, rs1858669268, rs1941650264, rs1941714576, rs1938725748, rs2037920694, rs2037920791, rs2079949302, rs2079962041, rs2079972258, rs2080188103, rs2080189052, rs1057520773, rs2081071680, rs2081187047, rs2081187692, rs2081358991, rs2081378550, rs1698943949, rs1698602170, rs1698192456, rs1698176171, rs1369404945, rs1698003832, rs1698002491, rs1697999557, rs398123581, rs1697674296, rs1697473667, rs1697277384, rs1697160366, rs1697157422, rs1426666349, rs1697134047, rs1696883051, rs1696628056, rs794726823, rs1696403750, rs897883046, rs1696401617, rs1696356978, rs1696338792, rs1693176153, rs1692577292, rs1240187329, rs1553529527, rs1692166604, rs1691093633, rs1691039670, rs1690583220, rs1690345764, rs1690011364, rs1553521530, rs1553521051, rs1386425283, rs1573952473, rs1689300152, rs1689298888, rs1689285717, rs1689278461, rs1238612161, rs1689271621, rs1253117981, rs1689218857, rs1689211960, rs1689211569, rs1689200375, rs1689142827, rs1684673339, rs1684663586, rs1699367901, rs1553553462, rs1699149959, rs1698958802, rs746440689, rs1692586274, rs1697876590, rs727504142, rs1689985819, rs794726764, rs1704944478, rs1178244073, rs1840967817, rs2080693649, rs1938214529, rs2080696874, rs2081190512, rs1691073965, rs1689488709, rs1691048388, rs1692581621, rs1692870117, rs121918785, rs749539763, rs1842042825, rs2081190344, rs1600789325
Leukemia	Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601	27903959
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131	30982612, 25296916
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	20615089, 21057379, 27846195

Show/Hide Unknown Diseases (14)

Unknown
Disease name	Disease term	dbSNP ID	References
Bipolar disorder	Bipolar Disorder		21057379
Central visual impairment	Central visual impairment
Cerebral atrophy	Cerebral atrophy
Choreoathetosis	Choreoathetosis
Dwarfism	Dwarfism
Dyskinetic syndrome	Dyskinetic syndrome
Gastroesophageal reflux disease	Gastroesophageal reflux disease
Hypodontia	Hypodontia
Movement disorders	Movement Disorders		30982612, 25296916
Nervous system diseases	Peripheral Nervous System Diseases		22891239
Non-specifi epileptic encephalopathy	Non-specific early-onset epileptic encephalopathy
Ptosis	Blepharoptosis, Ptosis	rs139920573
Status epilepticus	Status Epilepticus
Strabismus	Strabismus

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