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AGXT (alanine--glyoxylate aminotransferase)

Gene

189

Alanine--glyoxylate aminotransferase

AGXT

AGT, AGT1, AGXT1, PH1, SPAT, SPT, Ser-PyrAT, TLH6

2q37.3

This gene is expressed only in the liver and the encoded protein is localized mostly in the peroxisomes, where it is involved in glyoxylate detoxification. Mutations in this gene, some of which alter subcellular targetting, have been associated with type

Show/Hide all(174)

SNP ID	Visualize variation	Clinical significance	Consequence
rs34116584	C>A,G,T	Likely-benign, likely-pathogenic, benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs61729604	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs111742810	T>A	Pathogenic	Splice donor variant
rs111996685	G>A,C	Pathogenic	Splice donor variant
rs112673831	G>A,C,T	Likely-pathogenic	Splice acceptor variant
rs113681235	T>A,G	Pathogenic	Splice donor variant
rs121908520	T>C	Pathogenic	Coding sequence variant, missense variant
rs121908521	C>G,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs121908522	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs121908523	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121908524	T>A	Pathogenic	Coding sequence variant, missense variant
rs121908525	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121908526	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs121908527	G>A,C,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121908528	G>A	Pathogenic	Stop gained, coding sequence variant
rs121908529	G>A,C	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121908530	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs138025751	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs138584408	T>C	Pathogenic-likely-pathogenic	Initiator codon variant, missense variant
rs180177155	T>A	Pathogenic	Missense variant, coding sequence variant
rs180177156	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs180177157	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs180177158	G>A	Pathogenic	Splice donor variant
rs180177160	T>C	Pathogenic	Missense variant, coding sequence variant
rs180177161	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs180177162	G>A	Pathogenic	Missense variant, coding sequence variant
rs180177163	G>A	Pathogenic	Missense variant, coding sequence variant
rs180177164	CG>-	Pathogenic	Frameshift variant, coding sequence variant
rs180177165	T>C	Pathogenic	Missense variant, coding sequence variant
rs180177166	->CA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs180177168	G>A,C,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs180177170	G>A	Pathogenic	Missense variant, coding sequence variant
rs180177171	G>-,GG	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs180177172	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs180177173	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs180177177	G>A	Pathogenic	Splice acceptor variant
rs180177180	T>A,G	Pathogenic	Missense variant, coding sequence variant
rs180177181	G>C	Pathogenic	Missense variant, coding sequence variant
rs180177182	C>T	Pathogenic	Stop gained, coding sequence variant
rs180177183	->TCACACT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs180177184	C>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs180177185	G>C	Pathogenic	Missense variant, coding sequence variant
rs180177186	A>G	Pathogenic	Missense variant, coding sequence variant
rs180177187	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs180177189	G>A	Pathogenic	Missense variant, coding sequence variant
rs180177190	->GAG	Pathogenic	Inframe insertion, coding sequence variant
rs180177191	C>A,G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs180177193	->TCCTGGTTG	Pathogenic	Inframe insertion, coding sequence variant
rs180177194	TG>AT	Pathogenic	Missense variant, initiator codon variant
rs180177195	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs180177196	G>A	Pathogenic	Missense variant, coding sequence variant
rs180177197	T>C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs180177198	G>A	Pathogenic	Stop gained, coding sequence variant
rs180177199	G>T	Pathogenic	Missense variant, coding sequence variant
rs180177200	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs180177201	CC>-,C,CCC	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs180177202	C>A,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs180177203	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs180177207	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs180177208	G>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs180177210	C>T	Pathogenic	Stop gained, coding sequence variant
rs180177211	A>C,G	Pathogenic	Missense variant, coding sequence variant
rs180177213	G>T	Pathogenic	Missense variant, initiator codon variant
rs180177214	C>T	Pathogenic	Stop gained, coding sequence variant
rs180177215	TGG>-	Pathogenic	Inframe deletion, coding sequence variant
rs180177217	G>C,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs180177219	A>G	Pathogenic	Splice acceptor variant
rs180177220	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs180177221	GCTGCTGT>-	Pathogenic	Frameshift variant, coding sequence variant
rs180177222	T>C	Pathogenic	Missense variant, coding sequence variant
rs180177223	T>G	Pathogenic	Missense variant, coding sequence variant
rs180177224	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs180177225	C>A,T	Pathogenic, likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs180177227	G>A,C,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs180177230	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs180177231	G>A	Pathogenic	Missense variant, coding sequence variant
rs180177232	C>A,G,T	Pathogenic	Missense variant, stop gained, coding sequence variant, synonymous variant
rs180177233	CC>GA	Pathogenic	Missense variant, coding sequence variant
rs180177234	G>A	Pathogenic	Splice acceptor variant
rs180177235	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs180177236	G>A	Pathogenic	Missense variant, coding sequence variant
rs180177237	CATCCC>ATCGGT	Pathogenic	Missense variant, coding sequence variant
rs180177238	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs180177239	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs180177240	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs180177241	C>-,CC	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs180177243	A>C,G	Pathogenic	Missense variant, coding sequence variant
rs180177244	T>C,G	Pathogenic	Missense variant, coding sequence variant
rs180177245	A>G	Pathogenic	Splice acceptor variant
rs180177246	C>A	Pathogenic	Missense variant, coding sequence variant
rs180177247	C>A	Pathogenic	Stop gained, coding sequence variant
rs180177248	C>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs180177250	G>C	Pathogenic	Missense variant, coding sequence variant
rs180177251	TCCA>-	Pathogenic	Frameshift variant, coding sequence variant
rs180177252	G>A	Pathogenic	Missense variant, coding sequence variant
rs180177253	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs180177254	T>C	Pathogenic	Missense variant, coding sequence variant
rs180177255	AAGT>-	Pathogenic	Coding sequence variant, splice donor variant
rs180177256	G>C	Pathogenic	Intron variant
rs180177257	->T	Pathogenic	Frameshift variant, coding sequence variant
rs180177258	G>C	Pathogenic	Missense variant, coding sequence variant
rs180177259	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs180177261	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs180177262	T>G	Pathogenic	Missense variant, coding sequence variant
rs180177263	G>A	Pathogenic	Stop gained, coding sequence variant
rs180177264	T>C	Pathogenic	Missense variant, coding sequence variant
rs180177265	G>A,C	Pathogenic	Splice donor variant
rs180177267	G>C	Pathogenic-likely-pathogenic	Splice acceptor variant
rs180177268	T>C	Pathogenic	Missense variant, coding sequence variant
rs180177269	T>A	Pathogenic	Missense variant, coding sequence variant
rs180177270	CATCA>ACAATCTCAG	Pathogenic	Frameshift variant, coding sequence variant
rs180177271	T>C	Pathogenic	Missense variant, coding sequence variant
rs180177272	A>C	Pathogenic	Missense variant, coding sequence variant
rs180177273	AG>-,AGAG	Pathogenic	Frameshift variant, coding sequence variant
rs180177275	->A	Pathogenic	Frameshift variant, coding sequence variant
rs180177276	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs180177278	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs180177279	C>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs180177281	G>A,T	Pathogenic	Splice donor variant
rs180177284	G>C	Pathogenic	Missense variant, coding sequence variant
rs180177285	G>C	Likely-pathogenic	Splice acceptor variant
rs180177286	C>A,G,T	Pathogenic	Intron variant
rs180177287	T>C	Pathogenic	Missense variant, coding sequence variant
rs180177288	G>T	Pathogenic	Stop gained, coding sequence variant
rs180177289	GC>CG	Pathogenic	Missense variant, coding sequence variant
rs180177291	GCG>-	Pathogenic	Inframe deletion, coding sequence variant
rs180177292	T>C,G	Likely-pathogenic	Synonymous variant, stop gained, coding sequence variant
rs180177293	T>C	Pathogenic	Missense variant, coding sequence variant
rs180177294	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs180177295	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs180177296	C>T	Pathogenic	Stop gained, coding sequence variant
rs180177297	G>T	Pathogenic	Splice donor variant
rs180177298	G>A,T	Pathogenic, likely-pathogenic	Splice acceptor variant
rs180177299	C>T	Pathogenic	Missense variant, coding sequence variant
rs180177300	TG>-	Pathogenic	Frameshift variant, coding sequence variant
rs180177301	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs180177302	CTGGCT>-	Pathogenic	Inframe indel, coding sequence variant
rs180177303	A>C,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs369664123	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs376844297	C>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs536352238	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs569643246	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs756437332	C>G,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs767586362	G>A	Pathogenic	Coding sequence variant, missense variant
rs786204545	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs796052057	G>A,C,T	Pathogenic	Coding sequence variant, missense variant
rs796052058	C>A	Pathogenic	Coding sequence variant, missense variant
rs796052059	C>A	Pathogenic	Coding sequence variant, missense variant
rs796052060	G>T	Pathogenic	Coding sequence variant, missense variant
rs796052061	C>A	Pathogenic	Coding sequence variant, missense variant
rs796052062	G>A	Pathogenic	Coding sequence variant, missense variant
rs796052063	T>C	Pathogenic	Coding sequence variant, missense variant
rs796052064	G>A,C	Likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs796052065	G>A	Pathogenic	Coding sequence variant, missense variant
rs796052066	C>A	Pathogenic	Coding sequence variant, missense variant
rs796052067	G>T	Pathogenic	Splice donor variant
rs796052068	A>G	Pathogenic	Splice acceptor variant
rs796052069	->A	Pathogenic	Frameshift variant, coding sequence variant
rs796052070	GGAGCCCGAGTGCACCCGATGACCA>-	Pathogenic	Splice acceptor variant, coding sequence variant, intron variant
rs796052071	CCT>-	Pathogenic	Coding sequence variant, inframe deletion
rs796052072	TG>AA	Pathogenic	Coding sequence variant, missense variant
rs796052073	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs796052074	CA>-	Pathogenic	Frameshift variant, coding sequence variant
rs796052075	CG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057516896	AAGG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1553648488	->CTGCA	Pathogenic	Frameshift variant, coding sequence variant
rs1553648493	G>A	Likely-pathogenic	Splice donor variant
rs1553648568	T>A	Likely-pathogenic	Splice donor variant
rs1553648931	CCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGA	Pathogenic	Splice donor variant, intron variant, coding sequence variant, splice acceptor variant
rs1553648979	AGA>-,AGAAGA	Uncertain-significance, likely-pathogenic	Coding sequence variant, inframe deletion, inframe insertion
rs1553649007	T>G	Likely-pathogenic	Splice donor variant
rs1553649375	AG>-	Likely-pathogenic	Splice acceptor variant
rs1575707182	C>T	Pathogenic	Stop gained, coding sequence variant
rs1575711244	G>T	Pathogenic	Stop gained, coding sequence variant

Show/Hide all(21)

miRTarBase ID	miRNA	Experiments	Reference
MIRT459357	hsa-miR-6771-3p	PAR-CLIP	23592263
MIRT459356	hsa-miR-6849-3p	PAR-CLIP	23592263
MIRT459355	hsa-miR-3190-5p	PAR-CLIP	23592263
MIRT459354	hsa-miR-4786-5p	PAR-CLIP	23592263
MIRT459353	hsa-miR-3926	PAR-CLIP	23592263
MIRT459351	hsa-miR-3606-5p	PAR-CLIP	23592263
MIRT459352	hsa-miR-548s	PAR-CLIP	23592263
MIRT459355	hsa-miR-3190-5p	PAR-CLIP	27292025
MIRT459351	hsa-miR-3606-5p	PAR-CLIP	27292025
MIRT459353	hsa-miR-3926	PAR-CLIP	27292025
MIRT459354	hsa-miR-4786-5p	PAR-CLIP	27292025
MIRT459352	hsa-miR-548s	PAR-CLIP	27292025
MIRT459357	hsa-miR-6771-3p	PAR-CLIP	27292025
MIRT459356	hsa-miR-6849-3p	PAR-CLIP	27292025
MIRT459357	hsa-miR-6771-3p	PAR-CLIP	23592263
MIRT459356	hsa-miR-6849-3p	PAR-CLIP	23592263
MIRT459355	hsa-miR-3190-5p	PAR-CLIP	23592263
MIRT459354	hsa-miR-4786-5p	PAR-CLIP	23592263
MIRT459353	hsa-miR-3926	PAR-CLIP	23592263
MIRT459351	hsa-miR-3606-5p	PAR-CLIP	23592263
MIRT459352	hsa-miR-548s	PAR-CLIP	23592263

Show/Hide all(30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004760	Function	Serine-pyruvate transaminase activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	15911627, 22529745, 32296183
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005777	Component	Peroxisome	IBA	21873635
GO:0005777	Component	Peroxisome	IDA	1703535, 3709805, 7813517, 9053548
GO:0005782	Component	Peroxisomal matrix	IDA	3418107, 22198249
GO:0005782	Component	Peroxisomal matrix	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006625	Process	Protein targeting to peroxisome	TAS
GO:0008453	Function	Alanine-glyoxylate transaminase activity	IBA	21873635
GO:0008453	Function	Alanine-glyoxylate transaminase activity	IDA	16971151, 17696873, 18492492, 22198249
GO:0008453	Function	Alanine-glyoxylate transaminase activity	TAS	2363689
GO:0008483	Function	Transaminase activity	IDA	18492492, 20133649
GO:0009436	Process	Glyoxylate catabolic process	IDA	22198249
GO:0016597	Function	Amino acid binding	IDA	18492492
GO:0019265	Process	Glycine biosynthetic process, by transamination of glyoxylate	IBA	21873635
GO:0019265	Process	Glycine biosynthetic process, by transamination of glyoxylate	IDA	22198249
GO:0019448	Process	L-cysteine catabolic process	IDA	18492492
GO:0030170	Function	Pyridoxal phosphate binding	IDA	17696873, 20133649
GO:0030170	Function	Pyridoxal phosphate binding	IMP	15802217
GO:0034641	Process	Cellular nitrogen compound metabolic process	TAS
GO:0042802	Function	Identical protein binding	IPI	12899834, 22529745, 32296183
GO:0042803	Function	Protein homodimerization activity	IDA	12899834, 16971151, 20133649
GO:0042853	Process	L-alanine catabolic process	IDA	17696873, 18492492, 22198249
GO:0042866	Process	Pyruvate biosynthetic process	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0043621	Function	Protein self-association	IDA	16971151
GO:0046487	Process	Glyoxylate metabolic process	IMP	3709805
GO:0051384	Process	Response to glucocorticoid	IEA
GO:0051591	Process	Response to cAMP	IEA

MIM	HGNC	e!Ensembl
604285	341	ENSG00000172482

Protein

UniProt ID

P21549

Protein name

Alanine--glyoxylate aminotransferase (AGT) (EC 2.6.1.44) (Serine--pyruvate aminotransferase) (SPT) (EC 2.6.1.51)

Protein function

Peroxisomal aminotransferase that catalyzes the transamination of glyoxylate to glycine and contributes to the glyoxylate detoxification (PubMed:10960483, PubMed:12777626, PubMed:23229545, PubMed:24055001, PubMed:26149463). Also catalyzes the tr

PDB

1H0C , 1J04 , 2YOB , 3R9A , 4CBR , 4CBS , 4I8A , 4KXK , 4KYO , 5F9S , 5HHY , 5LUC , 5OFY , 5OG0 , 6RV0 , 6RV1 , 7NS7

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00266	Aminotran_5	23 → 376	Aminotransferase class-V	Domain

Sequence

MASHKLLVTPPKALLKPLSIPNQLLLGPGPSNLPPRIMAAGGLQMIGSMSKDMYQIMDEI
KEGIQYVFQTRNPLTLVISGSGHCALEAALVNVLEPGDSFLVGANGIWGQRAVDIGERIG
ARVHPMTKDPGGHYTLQEVEEGLAQHKPVLLFLTHGESSTGVLQPLDGFGELCHRYKCLL
LVDSVASLGGTPLYMDRQGIDILYSGSQKALNAPPGTSLISFSDKAKKKMYSRKTKPFSF
YLDIKWLANFWGCDDQPRMYHHTIPVISLYSLRESLALIAEQGLENSWRQHREAAAYLHG
RLQALGLQLFVKDPALRLPTVTTVAVPAGYDWRDIVSYVIDHFDIEIMGGLGPSTGKVLR
IGLLGCNATRENVDRVTEALRAALQHCPKKKL

Sequence length

392

Interactions

View interactions

	KEGG		Reactome
	Alanine, aspartate and glutamate metabolism Glycine, serine and threonine metabolism Glyoxylate and dicarboxylate metabolism Metabolic pathways Carbon metabolism 2-Oxocarboxylic acid metabolism Peroxisome		Glyoxylate metabolism and glycine degradation Peroxisomal protein import

Associated diseases

Show/Hide Causal Diseases (7)

Causal
Disease name	Disease term	dbSNP ID	References
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Atrioventricular block	Atrioventricular Block	rs766840243, rs763809932
Hyperoxaluria	Hyperoxaluria, Primary Hyperoxaluria, Primary hyperoxaluria, type I, Primary hyperoxaluria type 1	rs397509360, rs138207257, rs2041105506, rs267606763, rs267606764, rs80356708, rs119490108, rs121908520, rs121908521, rs121908522, rs121908523, rs121908524, rs121908525, rs121908526, rs121908527, rs121908528, rs121908530, rs121908529, rs180177201, rs180177238, rs180177321, rs672601351, rs180177322, rs180177157, rs180177168, rs180177195, rs180177197, rs180177207, rs180177227, rs180177239, rs180177253, rs180177259, rs786204545, rs180177267, rs180177301, rs180177156, rs180177307, rs138584408, rs180177194, rs180177213, rs180177191, rs34116584, rs180177262, rs180177268, rs180177278, rs180177162, rs180177166, rs180177170, rs180177171, rs180177172, rs180177173, rs180177177, rs767586362, rs180177181, rs180177182, rs796052058, rs796052069, rs180177183, rs180177184, rs180177185, rs180177186, rs796052059, rs180177187, rs180177189, rs180177193, rs180177198, rs796052060, rs180177199, rs180177200, rs180177202, rs180177203, rs796052061, rs180177208, rs138025751, rs796052067, rs113681235, rs796052070, rs180177210, rs180177211, rs180177214, rs180177215, rs180177217, rs180177219, rs180177220, rs180177221, rs180177222, rs180177223, rs180177224, rs180177225, rs180177231, rs180177232, rs180177233, rs180177234, rs180177235, rs180177236, rs180177237, rs180177240, rs180177241, rs180177243, rs180177244, rs796052062, rs180177245, rs180177246, rs536352238, rs180177247, rs180177248, rs180177250, rs180177251, rs180177252, rs180177254, rs111996685, rs111742810, rs180177256, rs1553648931, rs180177257, rs180177258, rs180177261, rs796052072, rs180177263, rs180177264, rs180177265, rs796052068, rs180177269, rs180177270, rs180177272, rs180177273, rs180177276, rs180177279, rs180177284, rs180177281, rs180177286, rs180177285, rs180177287, rs180177288, rs180177292, rs180177293, rs180177294, rs180177295, rs180177296, rs180177297, rs180177298, rs796052063, rs180177299, rs796052074, rs180177300, rs180177302, rs796052064, rs180177303, rs180177155, rs756437332, rs796052065, rs180177158, rs180177160, rs180177161, rs180177163, rs180177164, rs796052066, rs180177255, rs180177289, rs796052077, rs180177311, rs180177319, rs180177304, rs180177305, rs796052078, rs796052081, rs180177308, rs180177309, rs180177313, rs180177314, rs180177315, rs180177316, rs796052082, rs180177317, rs180177324, rs180177325, rs746419489, rs764396564, rs758304537, rs796052084, rs796052088, rs796052089, rs150702945, rs767405535, rs796052090, rs202047589, rs185803104, rs796052085, rs755562733, rs796052086, rs770050262, rs756489804, rs796052087, rs149150736, rs777046879, rs796052091, rs796052092, rs1057516896, rs751101495, rs1057517398, rs1057517238, rs1057516299, rs1057517333, rs1057517026, rs771019056, rs1057516990, rs1057516292, rs1057516823, rs1057516831, rs1419840309, rs757796926, rs1553648568, rs778567956, rs112673831, rs1553649375, rs1553648488, rs1553648493, rs1553649007, rs1554746094, rs1244822375, rs1554746097, rs1554746565, rs1422977131, rs1331106064, rs1554746793, rs1257080057, rs1554748528, rs1554748598, rs777683624, rs776817346, rs779208888, rs1554747871, rs111256477, rs1554747933, rs1554748534, rs1554748574, rs1425736036, rs1554874130, rs1554874148, rs746776892, rs990830655, rs752277936, rs749315029, rs1564297234, rs1564753668, rs924232072, rs1564300888, rs1564760008, rs774654020, rs1588757756, rs148049120, rs1553648979, rs1822898131	15327387, 12777626, 22844106, 15365967, 15802217, 24934730, 24988064, 24990153, 10960483, 25644115, 17460142, 20713123, 26252291, 28619084, 22529745, 28202121, 1703535, 18810341, 15464418, 10541294, 18282470, 9578076, 15356974, 9604803, 10862087, 10394939, 15849466, 27935012, 9192270, 16971151, 17460142, 22844106, 15961946, 15365967, 17495019, 1349575, 9002528, 1879825, 16850020, 15963748, 10453743, 1301173, 23810941, 20544097, 12777626, 23229545, 10960483, 23551880, 11562405, 23430879, 21488232, 24385516, 16208537, 25363903, 24718375, 24055001, 8101040, 17696873, 1703535, 15253729, 25644115, 19479957, 12768081, 18448374, 22685354, 11708860, 18782763, 15802217, 12559847, 23589421, 24934730, 15961945, 20016466, 2039493, 4701948, 24012869, 23861508, 25629080, 24988064, 22923379, 15110324, 15327387, 20133649, 20573805, 12899834, 21705122, 27915025, 26149463, 16912707, 27659337, 22018727, 23439734
Kidney disease	Chronic kidney disease stage 5	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315
Nephronophthisis	NEPHROLITHIASIS, CALCIUM OXALATE	rs62635288, rs267607116, rs201893408, rs267607117, rs202149403, rs118204032, rs121918244, rs750962965, rs1474058708, rs119456959, rs119456960, rs119456961, rs119456962, rs267606916, rs137852856, rs137852918, rs137852919, rs137852920, rs28940891, rs1278089386, rs137852922, rs137852923, rs1233478832, rs121907898, rs121907899, rs74315396, rs104893698, rs28936684, rs104893701, rs104893705, rs797044441, rs104893716, rs121964994, rs267607185, rs200844390, rs753348470, rs387906983, rs786205114, rs373909351, rs387907009, rs140511594, rs387907059, rs766132877, rs201188361, rs193922432, rs1565649749, rs387907309, rs387907310, rs387907311, rs145646425, rs397514728, rs397514257, rs587777024, rs587777025, rs397514258, rs375661404, rs398123285, rs398123538, rs398124546, rs368138001, rs759330, rs2070634, rs2070635, rs353623, rs353618, rs353612, rs353637, rs353630, rs353647, rs3794110, rs3794109, rs112762, rs3794105, rs7110737, rs7116432, rs6055363, rs2294305, rs2235250, rs2294301, rs2423326, rs6118004, rs2205818, rs2142697, rs6140463, rs2235245, rs2255183, rs587777350, rs587777351, rs587777352, rs587777486, rs879255575, rs368619022, rs879255576, rs587777487, rs369483167, rs587777488, rs587783011, rs144972972, rs727503968, rs727503969, rs730880299, rs757704417, rs760040426, rs758558609, rs755549444, rs763300393, rs794727964, rs182135982, rs758498695, rs775883520, rs777686211, rs756856188, rs777668842, rs756302731, rs751527253, rs138783896, rs869312915, rs769256610, rs878855332, rs376879175, rs878855335, rs886041154, rs886041637, rs766524637, rs769739938, rs201405662, rs376974221, rs201633414, rs1057519303, rs1057519304, rs202001274, rs1057519305, rs1057519306, rs752616462, rs1060499938, rs745340459, rs771215577, rs1064794347, rs201091657, rs771742823, rs1553484094, rs747861275, rs773521620, rs1456714047, rs1553773271, rs1555564134, rs752792782, rs398124289, rs1025515771, rs747052534, rs904520404, rs1553200990, rs1553178047, rs866982675, rs1182741031, rs1556026984, rs150001738, rs780247729, rs1555564214, rs372607453, rs61893682, rs549662742, rs774456004, rs1189889920, rs370210428, rs1557580413, rs1368105372, rs1559056633, rs765263671, rs1280238814, rs1560000875, rs1560002147, rs758238787, rs201237799, rs1560017690, rs1564123602, rs1425211517, rs369437168, rs764893412, rs747914869, rs778819060, rs1207804224, rs756090222, rs1564228101, rs1565455033, rs1322951938, rs1564236717, rs1565454034, rs375753623, rs374141736, rs1349732291, rs1017750255, rs1210874691, rs1379989124, rs1565582604, rs1485445500, rs758275952, rs1276839362, rs1576682880, rs1588420907, rs375416014, rs955421639, rs1596759273, rs755288504, rs1588153872, rs780020801, rs1576660495, rs1596088812, rs1576875819, rs779696701, rs759262253, rs775612958, rs1570504754, rs754862360, rs1679148969, rs1311042980, rs1682584195, rs753517219, rs1358793834, rs1560002113, rs1939543636, rs1205325321, rs1329661241, rs140611214, rs780500128, rs2061113374, rs1652115764, rs780148543, rs749866369, rs1459158279, rs756111113
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
Renal insufficiency	Renal Insufficiency	rs1596536873

Show/Hide Unknown Diseases (12)

Unknown
Disease name	Disease term	dbSNP ID	References
Atherosclerosis	Atherosclerosis	rs699947, rs59439148
Calcinosis cutis	Calcinosis cutis
Cutis marmorata	Cutis marmorata
Gangrene	Gangrene
Nephrocalcinosis	Nephrocalcinosis		28893421
Nephrolithiasis	Nephrolithiasis		28893421
Nervous system diseases	Peripheral Nervous System Diseases
Osteosclerosis	Osteosclerosis
Peripheral arterial stenosis	Peripheral arterial stenosis
Raynaud phenomenon	Raynaud Phenomenon
Retinal diseases	Retinal Diseases
Stroke	Cerebrovascular accident

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