SLC1A3 (solute carrier family 1 member 3)

Gene

• Entrez ID: 6507
• Gene name: Solute carrier family 1 member 3
• Gene symbol: SLC1A3
• Synonyms: EA6, EAAT1, GLAST, GLAST1
• Chromosome: 5
• Chromosome location: 5p13.2
• Summary: This gene encodes a member of a member of a high affinity glutamate transporter family. This gene functions in the termination of excitatory neurotransmission in central nervous system. Mutations are associated with episodic ataxia, Type 6. Alternative sp

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs137852619	C>G	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs137852620	T>A,G	Pathogenic	Missense variant, coding sequence variant, intron variant, genic downstream transcript variant
rs138085358	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022261	hsa-miR-124-3p	Microarray	18668037
MIRT1354051	hsa-miR-1262	CLIP-seq
MIRT1354052	hsa-miR-130a	CLIP-seq
MIRT1354053	hsa-miR-130b	CLIP-seq
MIRT1354054	hsa-miR-19a	CLIP-seq
MIRT1354055	hsa-miR-19b	CLIP-seq
MIRT1354056	hsa-miR-301a	CLIP-seq
MIRT1354057	hsa-miR-301b	CLIP-seq
MIRT1354058	hsa-miR-3666	CLIP-seq
MIRT1354059	hsa-miR-4295	CLIP-seq
MIRT1354060	hsa-miR-454	CLIP-seq
MIRT1354061	hsa-miR-4693-3p	CLIP-seq
MIRT1354062	hsa-miR-4701-3p	CLIP-seq
MIRT1354063	hsa-miR-4731-5p	CLIP-seq
MIRT2329306	hsa-miR-1265	CLIP-seq
MIRT2329307	hsa-miR-2052	CLIP-seq
MIRT2329308	hsa-miR-3161	CLIP-seq
MIRT2329309	hsa-miR-4286	CLIP-seq
MIRT2329310	hsa-miR-4700-3p	CLIP-seq
MIRT2329311	hsa-miR-561	CLIP-seq
MIRT2329312	hsa-miR-587	CLIP-seq
MIRT2329313	hsa-miR-654-3p	CLIP-seq
MIRT2329314	hsa-miR-764	CLIP-seq
MIRT2623558	hsa-miR-1	CLIP-seq
MIRT2623559	hsa-miR-1254	CLIP-seq
MIRT2623560	hsa-miR-1273	CLIP-seq
MIRT2623561	hsa-miR-140-3p	CLIP-seq
MIRT2623562	hsa-miR-142-3p	CLIP-seq
MIRT2623563	hsa-miR-145	CLIP-seq
MIRT2623564	hsa-miR-1976	CLIP-seq
MIRT2623565	hsa-miR-203	CLIP-seq
MIRT2329307	hsa-miR-2052	CLIP-seq
MIRT2623566	hsa-miR-206	CLIP-seq
MIRT2623567	hsa-miR-217	CLIP-seq
MIRT2623568	hsa-miR-219-2-3p	CLIP-seq
MIRT2623569	hsa-miR-2964a-3p	CLIP-seq
MIRT2623570	hsa-miR-3116	CLIP-seq
MIRT2623571	hsa-miR-3121-3p	CLIP-seq
MIRT2623572	hsa-miR-3129-3p	CLIP-seq
MIRT2623573	hsa-miR-3130-3p	CLIP-seq
MIRT2623574	hsa-miR-3143	CLIP-seq
MIRT2623575	hsa-miR-3150a-5p	CLIP-seq
MIRT2623576	hsa-miR-3150b-5p	CLIP-seq
MIRT2623577	hsa-miR-3163	CLIP-seq
MIRT2623578	hsa-miR-3170	CLIP-seq
MIRT2623579	hsa-miR-3180-5p	CLIP-seq
MIRT2623580	hsa-miR-3187-3p	CLIP-seq
MIRT2623581	hsa-miR-361-5p	CLIP-seq
MIRT2623582	hsa-miR-3647-3p	CLIP-seq
MIRT2623583	hsa-miR-365	CLIP-seq
MIRT2623584	hsa-miR-3662	CLIP-seq
MIRT2623585	hsa-miR-3673	CLIP-seq
MIRT2623586	hsa-miR-3674	CLIP-seq
MIRT2623587	hsa-miR-3690	CLIP-seq
MIRT2623588	hsa-miR-370	CLIP-seq
MIRT2623589	hsa-miR-409-3p	CLIP-seq
MIRT2623590	hsa-miR-409-5p	CLIP-seq
MIRT2623591	hsa-miR-410	CLIP-seq
MIRT2623592	hsa-miR-4254	CLIP-seq
MIRT2623593	hsa-miR-4265	CLIP-seq
MIRT2623594	hsa-miR-4280	CLIP-seq
MIRT2623595	hsa-miR-4282	CLIP-seq
MIRT2623596	hsa-miR-4287	CLIP-seq
MIRT2623597	hsa-miR-4296	CLIP-seq
MIRT2623598	hsa-miR-4307	CLIP-seq
MIRT2623599	hsa-miR-4322	CLIP-seq
MIRT2623600	hsa-miR-4418	CLIP-seq
MIRT2623601	hsa-miR-4435	CLIP-seq
MIRT2623602	hsa-miR-4443	CLIP-seq
MIRT2623603	hsa-miR-4645-3p	CLIP-seq
MIRT2623604	hsa-miR-4648	CLIP-seq
MIRT2623605	hsa-miR-4654	CLIP-seq
MIRT2623606	hsa-miR-4668-3p	CLIP-seq
MIRT2623607	hsa-miR-4680-3p	CLIP-seq
MIRT2623608	hsa-miR-4685-3p	CLIP-seq
MIRT2623609	hsa-miR-4694-3p	CLIP-seq
MIRT2623610	hsa-miR-4701-5p	CLIP-seq
MIRT2623611	hsa-miR-4711-3p	CLIP-seq
MIRT2623612	hsa-miR-4722-3p	CLIP-seq
MIRT2623613	hsa-miR-4738-3p	CLIP-seq
MIRT2623614	hsa-miR-4749-3p	CLIP-seq
MIRT2623615	hsa-miR-4753-3p	CLIP-seq
MIRT2623616	hsa-miR-4757-5p	CLIP-seq
MIRT2623617	hsa-miR-4759	CLIP-seq
MIRT2623618	hsa-miR-4766-5p	CLIP-seq
MIRT2623619	hsa-miR-4768-5p	CLIP-seq
MIRT2623620	hsa-miR-4769-5p	CLIP-seq
MIRT2623621	hsa-miR-4778-5p	CLIP-seq
MIRT2623622	hsa-miR-4780	CLIP-seq
MIRT2623623	hsa-miR-4796-5p	CLIP-seq
MIRT2623624	hsa-miR-485-3p	CLIP-seq
MIRT2623625	hsa-miR-491-3p	CLIP-seq
MIRT2623626	hsa-miR-501-3p	CLIP-seq
MIRT2623627	hsa-miR-502-3p	CLIP-seq
MIRT2623628	hsa-miR-509-3-5p	CLIP-seq
MIRT2623629	hsa-miR-509-5p	CLIP-seq
MIRT2623630	hsa-miR-513a-3p	CLIP-seq
MIRT2623631	hsa-miR-522	CLIP-seq
MIRT2623632	hsa-miR-543	CLIP-seq
MIRT2623633	hsa-miR-548a-3p	CLIP-seq
MIRT2623634	hsa-miR-548c-3p	CLIP-seq
MIRT2623635	hsa-miR-548e	CLIP-seq
MIRT2623636	hsa-miR-548f	CLIP-seq
MIRT2623637	hsa-miR-548s	CLIP-seq
MIRT2623638	hsa-miR-581	CLIP-seq
MIRT2623639	hsa-miR-588	CLIP-seq
MIRT2623640	hsa-miR-607	CLIP-seq
MIRT2623641	hsa-miR-613	CLIP-seq
MIRT2623642	hsa-miR-615-5p	CLIP-seq
MIRT2623643	hsa-miR-623	CLIP-seq
MIRT2623644	hsa-miR-630	CLIP-seq
MIRT2623645	hsa-miR-661	CLIP-seq
MIRT2623646	hsa-miR-765	CLIP-seq
MIRT2623647	hsa-miR-767-5p	CLIP-seq
MIRT2623558	hsa-miR-1	CLIP-seq
MIRT2623559	hsa-miR-1254	CLIP-seq
MIRT2623560	hsa-miR-1273	CLIP-seq
MIRT2690918	hsa-miR-1321	CLIP-seq
MIRT2623561	hsa-miR-140-3p	CLIP-seq
MIRT2623562	hsa-miR-142-3p	CLIP-seq
MIRT2623563	hsa-miR-145	CLIP-seq
MIRT2623564	hsa-miR-1976	CLIP-seq
MIRT2623565	hsa-miR-203	CLIP-seq
MIRT2329307	hsa-miR-2052	CLIP-seq
MIRT2623566	hsa-miR-206	CLIP-seq
MIRT2623567	hsa-miR-217	CLIP-seq
MIRT2623568	hsa-miR-219-2-3p	CLIP-seq
MIRT2690919	hsa-miR-2277-3p	CLIP-seq
MIRT2623569	hsa-miR-2964a-3p	CLIP-seq
MIRT2623570	hsa-miR-3116	CLIP-seq
MIRT2623571	hsa-miR-3121-3p	CLIP-seq
MIRT2623572	hsa-miR-3129-3p	CLIP-seq
MIRT2623573	hsa-miR-3130-3p	CLIP-seq
MIRT2623574	hsa-miR-3143	CLIP-seq
MIRT2623575	hsa-miR-3150a-5p	CLIP-seq
MIRT2623576	hsa-miR-3150b-5p	CLIP-seq
MIRT2690920	hsa-miR-3154	CLIP-seq
MIRT2690921	hsa-miR-3156-3p	CLIP-seq
MIRT2623577	hsa-miR-3163	CLIP-seq
MIRT2623578	hsa-miR-3170	CLIP-seq
MIRT2623579	hsa-miR-3180-5p	CLIP-seq
MIRT2623580	hsa-miR-3187-3p	CLIP-seq
MIRT2623581	hsa-miR-361-5p	CLIP-seq
MIRT2623582	hsa-miR-3647-3p	CLIP-seq
MIRT2623583	hsa-miR-365	CLIP-seq
MIRT2690922	hsa-miR-3660	CLIP-seq
MIRT2623585	hsa-miR-3673	CLIP-seq
MIRT2623586	hsa-miR-3674	CLIP-seq
MIRT2623587	hsa-miR-3690	CLIP-seq
MIRT2623588	hsa-miR-370	CLIP-seq
MIRT2690923	hsa-miR-371-5p	CLIP-seq
MIRT2623589	hsa-miR-409-3p	CLIP-seq
MIRT2623590	hsa-miR-409-5p	CLIP-seq
MIRT2623591	hsa-miR-410	CLIP-seq
MIRT2623592	hsa-miR-4254	CLIP-seq
MIRT2623593	hsa-miR-4265	CLIP-seq
MIRT2690924	hsa-miR-4267	CLIP-seq
MIRT2623594	hsa-miR-4280	CLIP-seq
MIRT2623595	hsa-miR-4282	CLIP-seq
MIRT2329309	hsa-miR-4286	CLIP-seq
MIRT2623596	hsa-miR-4287	CLIP-seq
MIRT2623597	hsa-miR-4296	CLIP-seq
MIRT2690925	hsa-miR-4301	CLIP-seq
MIRT2623599	hsa-miR-4322	CLIP-seq
MIRT2623600	hsa-miR-4418	CLIP-seq
MIRT2623601	hsa-miR-4435	CLIP-seq
MIRT2623602	hsa-miR-4443	CLIP-seq
MIRT2690926	hsa-miR-4526	CLIP-seq
MIRT2623603	hsa-miR-4645-3p	CLIP-seq
MIRT2623604	hsa-miR-4648	CLIP-seq
MIRT2623605	hsa-miR-4654	CLIP-seq
MIRT2623606	hsa-miR-4668-3p	CLIP-seq
MIRT2623607	hsa-miR-4680-3p	CLIP-seq
MIRT2623608	hsa-miR-4685-3p	CLIP-seq
MIRT2623609	hsa-miR-4694-3p	CLIP-seq
MIRT2623610	hsa-miR-4701-5p	CLIP-seq
MIRT2623611	hsa-miR-4711-3p	CLIP-seq
MIRT2623612	hsa-miR-4722-3p	CLIP-seq
MIRT2623613	hsa-miR-4738-3p	CLIP-seq
MIRT2690927	hsa-miR-4739	CLIP-seq
MIRT2623614	hsa-miR-4749-3p	CLIP-seq
MIRT2623615	hsa-miR-4753-3p	CLIP-seq
MIRT2690928	hsa-miR-4756-5p	CLIP-seq
MIRT2623616	hsa-miR-4757-5p	CLIP-seq
MIRT2623617	hsa-miR-4759	CLIP-seq
MIRT2623618	hsa-miR-4766-5p	CLIP-seq
MIRT2623619	hsa-miR-4768-5p	CLIP-seq
MIRT2623620	hsa-miR-4769-5p	CLIP-seq
MIRT2623621	hsa-miR-4778-5p	CLIP-seq
MIRT2623622	hsa-miR-4780	CLIP-seq
MIRT2623623	hsa-miR-4796-5p	CLIP-seq
MIRT2623624	hsa-miR-485-3p	CLIP-seq
MIRT2623625	hsa-miR-491-3p	CLIP-seq
MIRT2623626	hsa-miR-501-3p	CLIP-seq
MIRT2623627	hsa-miR-502-3p	CLIP-seq
MIRT2690929	hsa-miR-508-5p	CLIP-seq
MIRT2623628	hsa-miR-509-3-5p	CLIP-seq
MIRT2623629	hsa-miR-509-5p	CLIP-seq
MIRT2690930	hsa-miR-512-5p	CLIP-seq
MIRT2623630	hsa-miR-513a-3p	CLIP-seq
MIRT2623631	hsa-miR-522	CLIP-seq
MIRT2690931	hsa-miR-532-3p	CLIP-seq
MIRT2623632	hsa-miR-543	CLIP-seq
MIRT2623633	hsa-miR-548a-3p	CLIP-seq
MIRT2623634	hsa-miR-548c-3p	CLIP-seq
MIRT2623635	hsa-miR-548e	CLIP-seq
MIRT2623636	hsa-miR-548f	CLIP-seq
MIRT2623637	hsa-miR-548s	CLIP-seq
MIRT2329311	hsa-miR-561	CLIP-seq
MIRT2623638	hsa-miR-581	CLIP-seq
MIRT2623639	hsa-miR-588	CLIP-seq
MIRT2623641	hsa-miR-613	CLIP-seq
MIRT2623642	hsa-miR-615-5p	CLIP-seq
MIRT2623643	hsa-miR-623	CLIP-seq
MIRT2623644	hsa-miR-630	CLIP-seq
MIRT2623645	hsa-miR-661	CLIP-seq
MIRT2623646	hsa-miR-765	CLIP-seq
MIRT2690932	hsa-miR-766	CLIP-seq
MIRT2623647	hsa-miR-767-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
SP3	Unknown	14713304
USF1	Unknown	14713304

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001504	Process	Neurotransmitter uptake	TAS	8647279
GO:0005313	Function	L-glutamate transmembrane transporter activity	IDA	7521911
GO:0005314	Function	High-affinity glutamate transmembrane transporter activity	IDA	26690923
GO:0005314	Function	High-affinity glutamate transmembrane transporter activity	IMP	8123008, 28032905
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IMP	8123008, 26690923, 28032905
GO:0005887	Component	Integral component of plasma membrane	ISS
GO:0006811	Process	Ion transport	TAS
GO:0007268	Process	Chemical synaptic transmission	TAS	7521911
GO:0009925	Component	Basal plasma membrane	ISS
GO:0014047	Process	Glutamate secretion	TAS
GO:0015501	Function	Glutamate:sodium symporter activity	IDA	20477940
GO:0015501	Function	Glutamate:sodium symporter activity	IMP	8123008
GO:0015813	Process	L-glutamate transmembrane transport	IDA	26690923
GO:0016020	Component	Membrane	TAS	7521911
GO:0031410	Component	Cytoplasmic vesicle	ISS
GO:0043005	Component	Neuron projection	ISS
GO:0043025	Component	Neuronal cell body	ISS
GO:0045202	Component	Synapse	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	ISS
GO:0051938	Process	L-glutamate import	IDA	7521911
GO:0070633	Process	Transepithelial transport	ISS
GO:0070779	Process	D-aspartate import across plasma membrane	IDA	7521911
GO:0070779	Process	D-aspartate import across plasma membrane	IMP	8123008, 28032905
GO:0071805	Process	Potassium ion transmembrane transport	IDA	20477940
GO:0098712	Process	L-glutamate import across plasma membrane	IDA	26690923
GO:0098712	Process	L-glutamate import across plasma membrane	IMP	8123008, 28032905
GO:0098796	Component	Membrane protein complex	ISS
GO:0140009	Process	L-aspartate import across plasma membrane	IDA	20477940
GO:0140009	Process	L-aspartate import across plasma membrane	IMP	8123008
GO:0150104	Process	Transport across blood-brain barrier	ISS
GO:0150104	Process	Transport across blood-brain barrier	NAS	26590417, 30280653
GO:1902476	Process	Chloride transmembrane transport	IDA	20477940

Other IDs

• MIM: 600111
• HGNC: 10941
• e!Ensembl: ENSG00000079215

Protein

• UniProt ID: P43003
• Protein name: Excitatory amino acid transporter 1 (Sodium-dependent glutamate/aspartate transporter 1) (GLAST-1) (Solute carrier family 1 member 3)
• Protein function: Sodium-dependent, high-affinity amino acid transporter that mediates the uptake of L-glutamate and also L-aspartate and D-aspartate (PubMed:20477940, PubMed:26690923, PubMed:28032905, PubMed:28424515, PubMed:7521911, PubMed:8123008). Functions a
• PDB: 5LLM, 5LLU, 5LM4, 5MJU, 7NPW
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00375	SDF	50 → 497	Sodium:dicarboxylate symporter family	Family

• Sequence:

  MTKSNGEEPKMGGRMERFQQGVRKRTLLAKKKVQNITKEDVKSYLFRNAFVLLTVTAVIV
  GTILGFTLRPYRMSYREVKYFSFPGELLMRMLQMLVLPLIISSLVTGMAALDSKASGKMG
  MRAVVYYMTTTIIAVVIGIIIVIIIHPGKGTKENMHREGKIVRVTAADAFLDLIRNMFPP
  NLVEACFKQFKTNYEKRSFKVPIQANETLVGAVINNVSEAMETLTRITEELVPVPGSVNG
  VNALGLVVFSMCFGFVIGNMKEQGQALREFFDSLNEAIMRLVAVIMWYAPVGILFLIAGK
  IVEMEDMGVIGGQLAMYTVTVIVGLLIHAVIVLPLLYFLVTRKNPWVFIGGLLQALITAL
  GTSSSSATLPITFKCLEENNGVDKRVTRFVLPVGATINMDGTALYEALAAIFIAQVNNFE
  LNFGQIITISITATAASIGAAGIPQAGLVTMVIVLTSVGLPTDDITLIIAVDWFLDRLRT
  TTNVLGDSLGAGIVEHLSRHELKNRDVEMGNSVIEENEMKKPYQLIAQDNETEKPIDSET
  KM

• Sequence length: 542

Pathways

KEGG:

Synaptic vesicle cycle
Glutamatergic synapse
Huntington disease

Reactome:

Astrocytic Glutamate-Glutamine Uptake And Metabolism
Glutamate Neurotransmitter Release Cycle
Transport of inorganic cations/anions and amino acids/oligopeptides
Defective SLC1A3 causes episodic ataxia 6 (EA6)

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Alternating hemiplegia	Alternating hemiplegia of childhood	rs267606670, rs28934002, rs387907281, rs387907282, rs398122887, rs587777771, rs606231441, rs606231437, rs606231435, rs80356532, rs542652468, rs765909830, rs80356537, rs1555865401, rs886041431, rs782175860, rs1064797245, rs1131691940, rs1553244746, rs1599706522
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	11706102
Epilepsy	Epilepsy, Epilepsy, Cryptogenic, Awakening Epilepsy	rs113994140, rs119454947, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs1805032, rs387906420, rs121917752, rs121918622, rs121434579, rs1581220270, rs281865564, rs387907313, rs397514564, rs397514670, rs768241563, rs587776973, rs587776974, rs587776975, rs879255234, rs587776976, rs587776977, rs121917993, rs398123588, rs13306758, rs587777363, rs587777364, rs587777458, rs587777459, rs541024038, rs797044545, rs730882240, rs786205703, rs794726859, rs796053126, rs796053035, rs796053216, rs796052839, rs869025201, rs797044999, rs797044998, rs797045045, rs794726762, rs869312971, rs869312972, rs879255652, rs886037938, rs886037958, rs886037959, rs886037960, rs886037961, rs886037962, rs886037965, rs886037966, rs886039245, rs886039246, rs886039251, rs886039252, rs772872014, rs886039253, rs886039256, rs757511744, rs886039261, rs886039263, rs578185749, rs886039266, rs886039268, rs886039269, rs886039273, rs368820286, rs1057518801, rs1057518688, rs1057519107, rs1057519273, rs752753379, rs767795673, rs1057519424, rs755946598, rs760609867, rs1057521066, rs1057524233, rs1060501488, rs1060501487, rs755127868, rs751533302, rs771373457, rs1475605360, rs1555401942, rs1553567864, rs200661329, rs766667249, rs1556607762, rs1555882921, rs1555882867, rs1555900914, rs1553546836, rs77216276, rs755595256, rs1554169267, rs747661902, rs2105890565, rs1021001959, rs1555441032, rs1555439541, rs1556526609, rs1315483224, rs759952667, rs1555885023, rs1553456695, rs1555942720, rs1569083500, rs1559127505, rs1206309859, rs1567139896, rs1567134495, rs1431914212, rs1569166925, rs1569255443, rs1568955379, rs1567152003, rs374158137, rs1567129567, rs1569523728, rs1568991466, rs1569186093, rs1569254004, rs1372605067, rs1569067939, rs1568963062, rs1563959514, rs1569012755, rs1559118914, rs1602338615, rs1596522356, rs1364913665, rs1596522300, rs1596526976, rs1229740428, rs1596385588, rs1596500172, rs1596505517, rs1601925213, rs1601970168, rs1602010382, rs1602903591, rs1603014297, rs1603014708, rs1601875057, rs1601970824, rs1601755632, rs1587393982, rs1592977444, rs1575562076, rs1570998206, rs1588057922, rs1596528731, rs1602349641, rs1587401875, rs2065899210, rs1596526915, rs2093486364, rs2056165149, rs2056100951, rs781482552, rs1899868619, rs1900088045, rs1898675878, rs1898686157, rs1898837245, rs1898844513, rs2082841677, rs2085727988, rs2092933941, rs2091657024, rs1899864955, rs1898844907, rs2083056830, rs2084070588, rs1899713412, rs2082695884, rs1977106116, rs1977105425, rs1443687532	19853022
Episodic ataxia	Episodic Ataxia, EPISODIC ATAXIA, TYPE 6 (disorder), Episodic ataxia type 6	rs121908212, rs587776692, rs587776693, rs121908216, rs121908215, rs121908233, rs121908226, rs587776694, rs587776695, rs121908225, rs121909323, rs121909324, rs121908227, rs121909326, rs121908236, rs137852619, rs137852620, rs104894352, rs104894348, rs104894349, rs104894356, rs104894357, rs104894353, rs104894354, rs104894355, rs267607195, rs104894358, rs28933383, rs113994120, rs387906683, rs387906686, rs121908240, rs121908247, rs121908243, rs121908228, rs786200962, rs794727411, rs1553463427, rs796053166, rs121917753, rs1064794808, rs1555755977, rs1064794262, rs1064794263, rs1085308020, rs1553579488, rs746790849, rs1555762869, rs1555085761, rs1555085798, rs1555740805, rs1553578503, rs1555738369, rs1555751762, rs1315533129, rs1568473171, rs1568473233, rs1568493323, rs774224202, rs1568514371, rs1600272344, rs1600139781, rs1599294284, rs1600088360, rs374686479, rs1574571769, rs1600198481, rs1600242882, rs1568514116, rs1599292631, rs1600271575, rs1600180659, rs1702008435	19139306, 27829685, 16116111
Migraine	Migraine Disorders	rs794727411
Nystagmus	Nystagmus, End-Position	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
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	19078949, 24956246, 23356950, 19716271

Unknown
Disease name	Disease term	dbSNP ID	References
Anhedonia	Anhedonia		19409534
Bipolar disorder	Bipolar Disorder		11850151
Cerebellar atrophy	Cerebellar atrophy
Cerebellar hypoplasia	Cerebellar Hypoplasia
Dysarthria	Dysarthria
Motor delay	Clumsiness - motor delay