AFG3L2 (AFG3 like matrix AAA peptidase subunit 2)

Gene

• Entrez ID: 10939
• Gene name: AFG3 like matrix AAA peptidase subunit 2
• Gene symbol: AFG3L2
• Synonyms: OPA12, SCA28, SPAX5
• Chromosome: 18
• Chromosome location: 18p11.21
• Summary: This gene encodes a protein localized in mitochondria and closely related to paraplegin. The paraplegin gene is responsible for an autosomal recessive form of hereditary spastic paraplegia. This gene is a candidate gene for other hereditary spastic parapl

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs151344512	T>C,G	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs182327153	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs543422544	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1005670966	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1020764190	G>A	Pathogenic	Coding sequence variant, missense variant
rs1057518024	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1064795281	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1378484093	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs1568149481	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1598832526	C>T	Pathogenic	Splice donor variant
rs1598832568	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1598833532	C>T	Likely-pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT031837	hsa-miR-16-5p	Proteomics	18668040
MIRT771435	hsa-miR-1207-3p	CLIP-seq
MIRT771436	hsa-miR-1302	CLIP-seq
MIRT771437	hsa-miR-186	CLIP-seq
MIRT771438	hsa-miR-224	CLIP-seq
MIRT771439	hsa-miR-2467-5p	CLIP-seq
MIRT771440	hsa-miR-3133	CLIP-seq
MIRT771441	hsa-miR-3188	CLIP-seq
MIRT771442	hsa-miR-3622a-3p	CLIP-seq
MIRT771443	hsa-miR-3622b-3p	CLIP-seq
MIRT771444	hsa-miR-3652	CLIP-seq
MIRT771445	hsa-miR-369-3p	CLIP-seq
MIRT771446	hsa-miR-374c	CLIP-seq
MIRT771447	hsa-miR-380	CLIP-seq
MIRT771448	hsa-miR-3922-5p	CLIP-seq
MIRT771449	hsa-miR-3924	CLIP-seq
MIRT771450	hsa-miR-3975	CLIP-seq
MIRT771451	hsa-miR-4298	CLIP-seq
MIRT771452	hsa-miR-4302	CLIP-seq
MIRT771453	hsa-miR-4430	CLIP-seq
MIRT771454	hsa-miR-4446-5p	CLIP-seq
MIRT771455	hsa-miR-4495	CLIP-seq
MIRT771456	hsa-miR-4505	CLIP-seq
MIRT771457	hsa-miR-4640-5p	CLIP-seq
MIRT771458	hsa-miR-4699-3p	CLIP-seq
MIRT771459	hsa-miR-4722-3p	CLIP-seq
MIRT771460	hsa-miR-4726-5p	CLIP-seq
MIRT771461	hsa-miR-4755-5p	CLIP-seq
MIRT771462	hsa-miR-4786-3p	CLIP-seq
MIRT771463	hsa-miR-485-5p	CLIP-seq
MIRT771464	hsa-miR-642a	CLIP-seq
MIRT771465	hsa-miR-648	CLIP-seq
MIRT771466	hsa-miR-655	CLIP-seq
MIRT1927642	hsa-miR-1273	CLIP-seq
MIRT1927643	hsa-miR-1273c	CLIP-seq
MIRT1927644	hsa-miR-188-5p	CLIP-seq
MIRT1927645	hsa-miR-3150b-3p	CLIP-seq
MIRT1927646	hsa-miR-324-5p	CLIP-seq
MIRT1927647	hsa-miR-4311	CLIP-seq
MIRT1927648	hsa-miR-4422	CLIP-seq
MIRT1927649	hsa-miR-4471	CLIP-seq
MIRT1927650	hsa-miR-4481	CLIP-seq
MIRT1927651	hsa-miR-4649-5p	CLIP-seq
MIRT1927652	hsa-miR-4689	CLIP-seq
MIRT1927653	hsa-miR-4709-3p	CLIP-seq
MIRT1927654	hsa-miR-4745-5p	CLIP-seq
MIRT1927655	hsa-miR-4784	CLIP-seq
MIRT1927656	hsa-miR-885-5p	CLIP-seq
MIRT2168406	hsa-miR-1245	CLIP-seq
MIRT2168407	hsa-miR-1260	CLIP-seq
MIRT2168408	hsa-miR-1260b	CLIP-seq
MIRT2168409	hsa-miR-130a	CLIP-seq
MIRT2168410	hsa-miR-130b	CLIP-seq
MIRT2168411	hsa-miR-148a	CLIP-seq
MIRT2168412	hsa-miR-148b	CLIP-seq
MIRT2168413	hsa-miR-152	CLIP-seq
MIRT2168414	hsa-miR-1825	CLIP-seq
MIRT2168415	hsa-miR-188-3p	CLIP-seq
MIRT1927644	hsa-miR-188-5p	CLIP-seq
MIRT2168416	hsa-miR-199a-5p	CLIP-seq
MIRT2168417	hsa-miR-199b-5p	CLIP-seq
MIRT2168418	hsa-miR-208a	CLIP-seq
MIRT2168419	hsa-miR-208b	CLIP-seq
MIRT2168420	hsa-miR-27a	CLIP-seq
MIRT2168421	hsa-miR-27b	CLIP-seq
MIRT2168422	hsa-miR-301a	CLIP-seq
MIRT2168423	hsa-miR-301b	CLIP-seq
MIRT2168424	hsa-miR-3064-3p	CLIP-seq
MIRT2168425	hsa-miR-3120-3p	CLIP-seq
MIRT2168426	hsa-miR-3130-3p	CLIP-seq
MIRT2168427	hsa-miR-3145-5p	CLIP-seq
MIRT2168428	hsa-miR-3156-3p	CLIP-seq
MIRT2168429	hsa-miR-3182	CLIP-seq
MIRT1927646	hsa-miR-324-5p	CLIP-seq
MIRT2168430	hsa-miR-3614-5p	CLIP-seq
MIRT2168431	hsa-miR-3617	CLIP-seq
MIRT2168432	hsa-miR-3666	CLIP-seq
MIRT2168433	hsa-miR-4286	CLIP-seq
MIRT2168434	hsa-miR-4295	CLIP-seq
MIRT2168435	hsa-miR-4320	CLIP-seq
MIRT1927649	hsa-miR-4471	CLIP-seq
MIRT2168436	hsa-miR-454	CLIP-seq
MIRT2168437	hsa-miR-4659a-3p	CLIP-seq
MIRT2168438	hsa-miR-4659b-3p	CLIP-seq
MIRT2168439	hsa-miR-4690-3p	CLIP-seq
MIRT771459	hsa-miR-4722-3p	CLIP-seq
MIRT2168440	hsa-miR-4766-5p	CLIP-seq
MIRT2168441	hsa-miR-4775	CLIP-seq
MIRT2168442	hsa-miR-4782-5p	CLIP-seq
MIRT2168443	hsa-miR-4793-3p	CLIP-seq
MIRT2168444	hsa-miR-499-5p	CLIP-seq
MIRT2168445	hsa-miR-513a-5p	CLIP-seq
MIRT2168446	hsa-miR-548aa	CLIP-seq
MIRT2168447	hsa-miR-567	CLIP-seq
MIRT2168448	hsa-miR-641	CLIP-seq
MIRT1927656	hsa-miR-885-5p	CLIP-seq
MIRT2168449	hsa-miR-891a	CLIP-seq
MIRT1927649	hsa-miR-4471	CLIP-seq
MIRT2470987	hsa-miR-103a	CLIP-seq
MIRT2470988	hsa-miR-107	CLIP-seq
MIRT2470989	hsa-miR-1179	CLIP-seq
MIRT771435	hsa-miR-1207-3p	CLIP-seq
MIRT2470990	hsa-miR-1227	CLIP-seq
MIRT2470991	hsa-miR-1285	CLIP-seq
MIRT771436	hsa-miR-1302	CLIP-seq
MIRT2470992	hsa-miR-2355-5p	CLIP-seq
MIRT771439	hsa-miR-2467-5p	CLIP-seq
MIRT2168424	hsa-miR-3064-3p	CLIP-seq
MIRT2470993	hsa-miR-3180-5p	CLIP-seq
MIRT2168429	hsa-miR-3182	CLIP-seq
MIRT2470994	hsa-miR-3187-5p	CLIP-seq
MIRT771441	hsa-miR-3188	CLIP-seq
MIRT2470995	hsa-miR-3192	CLIP-seq
MIRT2470996	hsa-miR-326	CLIP-seq
MIRT2470997	hsa-miR-330-5p	CLIP-seq
MIRT2470998	hsa-miR-338-3p	CLIP-seq
MIRT2168430	hsa-miR-3614-5p	CLIP-seq
MIRT771444	hsa-miR-3652	CLIP-seq
MIRT2470999	hsa-miR-3679-3p	CLIP-seq
MIRT2471000	hsa-miR-378g	CLIP-seq
MIRT2471001	hsa-miR-3921	CLIP-seq
MIRT771448	hsa-miR-3922-5p	CLIP-seq
MIRT2471002	hsa-miR-3929	CLIP-seq
MIRT771450	hsa-miR-3975	CLIP-seq
MIRT2168433	hsa-miR-4286	CLIP-seq
MIRT771451	hsa-miR-4298	CLIP-seq
MIRT2471003	hsa-miR-4300	CLIP-seq
MIRT771452	hsa-miR-4302	CLIP-seq
MIRT2471004	hsa-miR-4310	CLIP-seq
MIRT2471005	hsa-miR-4314	CLIP-seq
MIRT2471006	hsa-miR-4419b	CLIP-seq
MIRT771453	hsa-miR-4430	CLIP-seq
MIRT2471007	hsa-miR-4437	CLIP-seq
MIRT771454	hsa-miR-4446-5p	CLIP-seq
MIRT2471008	hsa-miR-4478	CLIP-seq
MIRT2471009	hsa-miR-4486	CLIP-seq
MIRT771456	hsa-miR-4505	CLIP-seq
MIRT2471010	hsa-miR-4521	CLIP-seq
MIRT2471011	hsa-miR-4530	CLIP-seq
MIRT771457	hsa-miR-4640-5p	CLIP-seq
MIRT2471012	hsa-miR-4646-5p	CLIP-seq
MIRT2471013	hsa-miR-4649-3p	CLIP-seq
MIRT2471014	hsa-miR-4653-5p	CLIP-seq
MIRT2168437	hsa-miR-4659a-3p	CLIP-seq
MIRT2168438	hsa-miR-4659b-3p	CLIP-seq
MIRT2471015	hsa-miR-4668-3p	CLIP-seq
MIRT2471016	hsa-miR-4674	CLIP-seq
MIRT2471017	hsa-miR-4714-3p	CLIP-seq
MIRT2471018	hsa-miR-4715-3p	CLIP-seq
MIRT771460	hsa-miR-4726-5p	CLIP-seq
MIRT771461	hsa-miR-4755-5p	CLIP-seq
MIRT2471019	hsa-miR-4759	CLIP-seq
MIRT2168440	hsa-miR-4766-5p	CLIP-seq
MIRT2471020	hsa-miR-4794	CLIP-seq
MIRT771463	hsa-miR-485-5p	CLIP-seq
MIRT2471021	hsa-miR-488	CLIP-seq
MIRT2471022	hsa-miR-612	CLIP-seq
MIRT771464	hsa-miR-642a	CLIP-seq
MIRT771465	hsa-miR-648	CLIP-seq
MIRT2471023	hsa-miR-920	CLIP-seq
MIRT2470987	hsa-miR-103a	CLIP-seq
MIRT2470988	hsa-miR-107	CLIP-seq
MIRT2470989	hsa-miR-1179	CLIP-seq
MIRT771435	hsa-miR-1207-3p	CLIP-seq
MIRT2470990	hsa-miR-1227	CLIP-seq
MIRT2470991	hsa-miR-1285	CLIP-seq
MIRT771436	hsa-miR-1302	CLIP-seq
MIRT2470992	hsa-miR-2355-5p	CLIP-seq
MIRT771439	hsa-miR-2467-5p	CLIP-seq
MIRT2168424	hsa-miR-3064-3p	CLIP-seq
MIRT2470993	hsa-miR-3180-5p	CLIP-seq
MIRT2168429	hsa-miR-3182	CLIP-seq
MIRT2470994	hsa-miR-3187-5p	CLIP-seq
MIRT771441	hsa-miR-3188	CLIP-seq
MIRT2470995	hsa-miR-3192	CLIP-seq
MIRT2470996	hsa-miR-326	CLIP-seq
MIRT2470997	hsa-miR-330-5p	CLIP-seq
MIRT2470998	hsa-miR-338-3p	CLIP-seq
MIRT2168430	hsa-miR-3614-5p	CLIP-seq
MIRT771444	hsa-miR-3652	CLIP-seq
MIRT2470999	hsa-miR-3679-3p	CLIP-seq
MIRT2471000	hsa-miR-378g	CLIP-seq
MIRT2471001	hsa-miR-3921	CLIP-seq
MIRT771448	hsa-miR-3922-5p	CLIP-seq
MIRT2471002	hsa-miR-3929	CLIP-seq
MIRT771450	hsa-miR-3975	CLIP-seq
MIRT2168433	hsa-miR-4286	CLIP-seq
MIRT771451	hsa-miR-4298	CLIP-seq
MIRT2471003	hsa-miR-4300	CLIP-seq
MIRT771452	hsa-miR-4302	CLIP-seq
MIRT2471004	hsa-miR-4310	CLIP-seq
MIRT2471005	hsa-miR-4314	CLIP-seq
MIRT2471006	hsa-miR-4419b	CLIP-seq
MIRT771453	hsa-miR-4430	CLIP-seq
MIRT2471007	hsa-miR-4437	CLIP-seq
MIRT771454	hsa-miR-4446-5p	CLIP-seq
MIRT2471008	hsa-miR-4478	CLIP-seq
MIRT2471009	hsa-miR-4486	CLIP-seq
MIRT771456	hsa-miR-4505	CLIP-seq
MIRT2471010	hsa-miR-4521	CLIP-seq
MIRT2471011	hsa-miR-4530	CLIP-seq
MIRT771457	hsa-miR-4640-5p	CLIP-seq
MIRT2471012	hsa-miR-4646-5p	CLIP-seq
MIRT2471013	hsa-miR-4649-3p	CLIP-seq
MIRT2471014	hsa-miR-4653-5p	CLIP-seq
MIRT2168437	hsa-miR-4659a-3p	CLIP-seq
MIRT2168438	hsa-miR-4659b-3p	CLIP-seq
MIRT2471015	hsa-miR-4668-3p	CLIP-seq
MIRT2471016	hsa-miR-4674	CLIP-seq
MIRT2471017	hsa-miR-4714-3p	CLIP-seq
MIRT2471018	hsa-miR-4715-3p	CLIP-seq
MIRT771460	hsa-miR-4726-5p	CLIP-seq
MIRT771461	hsa-miR-4755-5p	CLIP-seq
MIRT2471019	hsa-miR-4759	CLIP-seq
MIRT2168440	hsa-miR-4766-5p	CLIP-seq
MIRT2471020	hsa-miR-4794	CLIP-seq
MIRT771463	hsa-miR-485-5p	CLIP-seq
MIRT2471021	hsa-miR-488	CLIP-seq
MIRT2674668	hsa-miR-501-3p	CLIP-seq
MIRT2674669	hsa-miR-502-3p	CLIP-seq
MIRT2471022	hsa-miR-612	CLIP-seq
MIRT771464	hsa-miR-642a	CLIP-seq
MIRT771465	hsa-miR-648	CLIP-seq
MIRT2674670	hsa-miR-767-5p	CLIP-seq
MIRT2471023	hsa-miR-920	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004176	Function	ATP-dependent peptidase activity	IEA
GO:0004222	Function	Metalloendopeptidase activity	IDA	22354088
GO:0005515	Function	Protein binding	IPI	14623864, 26387735, 27642048, 32814053
GO:0005524	Function	ATP binding	IEA
GO:0005739	Component	Mitochondrion	IDA	22354088
GO:0005743	Component	Mitochondrial inner membrane	IBA	21873635
GO:0005743	Component	Mitochondrial inner membrane	ISS
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005745	Component	M-AAA complex	IEA
GO:0006508	Process	Proteolysis	IMP	27642048
GO:0006851	Process	Mitochondrial calcium ion transmembrane transport	TAS
GO:0007409	Process	Axonogenesis	IMP	27642048
GO:0007528	Process	Neuromuscular junction development	IEA
GO:0008053	Process	Mitochondrial fusion	IBA	21873635
GO:0008237	Function	Metallopeptidase activity	IMP	27642048
GO:0008270	Function	Zinc ion binding	IEA
GO:0016485	Process	Protein processing	ISS
GO:0016540	Process	Protein autoprocessing	ISS
GO:0021675	Process	Nerve development	IEA
GO:0033619	Process	Membrane protein proteolysis	IDA	22354088
GO:0034982	Process	Mitochondrial protein processing	IBA	21873635
GO:0036444	Process	Calcium import into the mitochondrion	IMP	27642048
GO:0040014	Process	Regulation of multicellular organism growth	IEA
GO:0042407	Process	Cristae formation	IBA	21873635
GO:0042552	Process	Myelination	IEA
GO:0048747	Process	Muscle fiber development	IEA
GO:0051082	Function	Unfolded protein binding	TAS	10395799
GO:0051560	Process	Mitochondrial calcium ion homeostasis	IMP	27642048
GO:0060013	Process	Righting reflex	IEA
GO:0065003	Process	Protein-containing complex assembly	IBA	21873635

Other IDs

• MIM: 604581
• HGNC: 315
• e!Ensembl: ENSG00000141385

Protein

• UniProt ID: Q9Y4W6
• Protein name: Mitochondrial inner membrane m-AAA protease component AFG3L2 (EC 3.4.24.-) (EC 3.6.-.-) (AFG3-like protein 2) (Paraplegin-like protein)
• Protein function: Catalytic component of the m-AAA protease, a protease that plays a key role in proteostasis of inner mitochondrial membrane proteins, and which is essential for axonal and neuron development (PubMed:19748354, PubMed:28396416, PubMed:29932645, Pu
• PDB: 2LNA, 6NYY
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06480	FtsH_ext	146 → 242	FtsH Extracellular	Family
  PF00004	AAA	344 → 477	ATPase family associated with various cellular activities (AAA)	Domain
  PF17862	AAA_lid_3	505 → 547	AAA+ lid domain	Domain
  PF01434	Peptidase_M41	561 → 744	Peptidase family M41	Domain

• Sequence:

  MAHRCLRLWGRGGCWPRGLQQLLVPGGVGPGEQPCLRTLYRFVTTQARASRNSLLTDIIA
  AYQRFCSRPPKGFEKYFPNGKNGKKASEPKEVMGEKKESKPAATTRSSGGGGGGGGKRGG
  KKDDSHWWSRFQKGDIPWDDKDFRMFFLWTALFWGGVMFYLLLKRSGREITWKDFVNNYL
  SKGVVDRLEVVNKRFVRVTFTPGKTPVDGQYVWFNIGSVDTFERNLETLQQELGIEGENR
  VPVVYIAESDGSFLLSMLPTVLIIAFLLYTIRRGPAGIGRTGRGMGGLFSVGETTAKVLK
  DEIDVKFKDVAGCEEAKLEIMEFVNFLKNPKQYQDLGAKIPKGAILTGPPGTGKTLLAKA
  TAGEANVPFITVSGSEFLEMFVGVGPARVRDLFALARKNAPCILFIDEIDAVGRKRGRGN
  FGGQSEQENTLNQLLVEMDGFNTTTNVVILAGTNRPDILDPALLRPGRFDRQIFIGPPDI
  KGRASIFKVHLRPLKLDSTLEKDKLARKLASLTPGFSGADVANVCNEAALIAARHLSDSI
  NQKHFEQAIERVIGGLEKKTQVLQPEEKKTVAYHEAGHAVAGWYLEHADPLLKVSIIPRG
  KGLGYAQYLPKEQYLYTKEQLLDRMCMTLGGRVSEEIFFGRITTGAQDDLRKVTQSAYAQ
  IVQFGMNEKVGQISFDLPRQGDMVLEKPYSEATARLIDDEVRILINDAYKRTVALLTEKK
  ADVEKVALLLLEKEVLDKNDMVELLGPRPFAEKSTYEEFVEGTGSLDEDTSLPEGLKDWN
  KEREKEKEEPPGEKVAN

• Sequence length: 797

Pathways

KEGG:

Spinocerebellar ataxia

Reactome:

Processing of SMDT1

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Action myoclonus-renal failure syndrome	Action Myoclonus-Renal Failure Syndrome	rs727502772, rs727502773, rs121909118, rs121909119, rs727502781, rs727502782, rs200053119, rs886041078, rs886041077, rs886041076, rs886041075, rs995674389, rs1553948516, rs1578733075	25401298
Spinocerebellar ataxia	Ataxia, Spinocerebellar, Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia Type 2, Spinocerebellar Ataxia Type 4, Spinocerebellar Ataxia Type 5, Spinocerebellar Ataxia Type 6 (disorder), Spinocerebellar Ataxia Type 7, SPINOCEREBELLAR ATAXIA 28, Spinocerebellar ataxia type 28	rs80356538, rs80356539, rs56144125, rs28937887, rs80356544, rs80356540, rs80356542, rs1941485201, rs121918306, rs151344520, rs151344519, rs151344521, rs151344523, rs151344512, rs193922926, rs104894393, rs587776685, rs121908216, rs121908215, rs121908217, rs121909326, rs121918511, rs121918512, rs121918513, rs121918514, rs121918515, rs121918516, rs121918517, rs121918518, rs1555808841, rs104894699, rs104894700, rs121912425, rs121913123, rs267606939, rs201486601, rs387906679, rs151344514, rs151344515, rs151344517, rs387907033, rs387907089, rs794726680, rs761213683, rs794726681, rs1555779353, rs151344513, rs151344518, rs151344522, rs397514535, rs397514536, rs318240735, rs386134171, rs386134158, rs386134159, rs386134160, rs386134161, rs386134162, rs386134163, rs386134164, rs386134165, rs386134166, rs386134168, rs386134170, rs386134169, rs146859515, rs373728971, rs397515475, rs397515476, rs587777052, rs121908247, rs121908200, rs398122959, rs587777127, rs587777128, rs587777235, rs587777340, rs587777341, rs587777342, rs587777344, rs587777345, rs587777346, rs587777347, rs587780326, rs587777670, rs587777671, rs606231451, rs606231452, rs540331226, rs144272231, rs690016544, rs727502823, rs372250159, rs793888526, rs876657385, rs869320748, rs876657386, rs786205229, rs876657387, rs774694340, rs786205867, rs794727411, rs797044955, rs797044872, rs797045634, rs797045240, rs765592794, rs797045900, rs748445058, rs863223919, rs765987297, rs863224882, rs753611141, rs869025292, rs869025293, rs755221106, rs869312685, rs751181600, rs886037832, rs875989881, rs372245668, rs879255601, rs876657414, rs752281590, rs879253883, rs1114167316, rs879255651, rs879255653, rs879255654, rs886039392, rs540839115, rs886039762, rs201128942, rs886041279, rs531656357, rs1057519453, rs1057519454, rs573267388, rs1057519561, rs200277996, rs1064795856, rs749320057, rs750331613, rs1131692265, rs761564262, rs1555768154, rs1210764379, rs758937084, rs1555475283, rs1555475375, rs760424025, rs1555806333, rs1554308513, rs1554274719, rs1554317158, rs201920319, rs1553724533, rs1554985851, rs768831597, rs1554986345, rs1555755878, rs1554902760, rs368143665, rs1555370787, rs1322796318, rs1553756062, rs772345347, rs149905705, rs1555475794, rs760752847, rs1555781806, rs1555738369, rs1554986337, rs1184563885, rs1553758021, rs1559718601, rs1206950481, rs1568523843, rs748984540, rs1557539450, rs1557541619, rs771145682, rs1564808324, rs1567283195, rs752352896, rs1557794465, rs547792505, rs193922929, rs1571636501, rs1571636508, rs1571939827, rs1571939905, rs1559603328, rs1562374476, rs1599651549, rs1590020571, rs1598832526, rs1575415900, rs779142717, rs781016340, rs1366090807, rs1579319300, rs1311909367, rs1589625941, rs749656742, rs1317590341, rs1599943097, rs1590955348, rs749679347, rs1590911156, rs1395191127, rs1405576707, rs541484241, rs1598820860, rs1598832568, rs1589611043, rs758809498, rs754446573	20208537, 22022284, 20208537, 30544562, 20725928, 26677414, 22964162, 20354562, 27604308, 29053796, 24293060
Coronary artery disease	Coronary Artery Disease	rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537	20725928
Dentatorubral pallidoluysian atrophy	Dentatorubral-Pallidoluysian Atrophy	rs60216939	25401298
Hypercalcemia	Hypercalcemia	rs876657376, rs387907322, rs777676129, rs387907323, rs114368325, rs6068812, rs387907324, rs777947329, rs201304511, rs769409705, rs200095793, rs876661338, rs1554095500, rs139763321, rs774432244, rs781367354	20725928
Hypertension	Hypertensive disease	rs13306026, rs13333226	20725928
Mental retardation	Mild Mental Retardation	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
Myoclonic epilepsy	Familial Progressive Myoclonic Epilepsy, Myoclonic Epilepsies, Progressive	rs267607103, rs267607104, rs137852778, rs137852781, rs147484110, rs74315442, rs74315443, rs121909346, rs121918622, rs121918623, rs121917954, rs121917955, rs1574272192, rs121918624, rs121918625, rs121918628, rs121918629, rs121918630, rs1574061044, rs121918632, rs397514458, rs397514459, rs386833439, rs386833440, rs386833441, rs796943858, rs386833443, rs398122387, rs121917923, rs121917957, rs121917929, rs121917927, rs121917966, rs121917967, rs121917990, rs121917941, rs121917964, rs121917943, rs121917972, rs121917965, rs121917918, rs121917963, rs121917911, rs121917912, rs121917986, rs121917987, rs121917913, rs121917974, rs121917945, rs121917975, rs121917919, rs121917993, rs121917915, rs121917995, rs121917976, rs121917949, rs121917926, rs121917950, rs121917951, rs121917952, rs121917980, rs121917921, rs121917981, rs121917935, rs121917936, rs121917984, rs121917937, rs121917985, rs121917909, rs121917938, rs121917928, rs121918753, rs121918782, rs121918784, rs121918733, rs121918734, rs121918788, rs121918736, rs121917969, rs121918775, rs121918737, rs121918786, rs121918796, rs121918754, rs121918745, rs121918738, rs121918746, rs121918740, rs121918741, rs121918789, rs121918742, rs121918791, rs121918811, rs121917922, rs121918797, rs121918744, rs121918778, rs121918767, rs121918779, rs121918770, rs121918763, rs121918757, rs121918751, rs121918783, rs121918773, rs121918793, rs121918780, rs121918735, rs398123585, rs398123588, rs398123593, rs545986367, rs727504136, rs794726737, rs794726739, rs794726845, rs779614747, rs794726726, rs372098964, rs794726801, rs794726769, rs794726781, rs794726780, rs794726741, rs794726783, rs794726832, rs794726814, rs794726722, rs794726703, rs794726702, rs794726763, rs794726802, rs794726804, rs794726748, rs794726851, rs794726740, rs794726754, rs794726698, rs794726758, rs794726760, rs794726819, rs794726839, rs794726759, rs199727342, rs794726701, rs794726850, rs794726785, rs794726800, rs764037830, rs794726757, rs794726752, rs794726825, rs794726835, rs139300715, rs794726809, rs794726696, rs794726734, rs794726699, rs794726705, rs794726784, rs794726745, rs794726707, rs794726779, rs794726821, rs794726822, rs794726789, rs794726723, rs146878122, rs794726816, rs794726700, rs794726853, rs794726731, rs794726852, rs794726841, rs794726709, rs777939538, rs794726817, rs794726727, rs794726706, rs794726770, rs794726735, rs794726744, rs794726854, rs794726710, rs794726720, rs794726836, rs794726774, rs794726729, rs794726728, rs794726733, rs542420576, rs794726756, rs794726813, rs794726830, rs794726714, rs794726772, rs1696406839, rs794726842, rs794726828, rs794726823, rs794726708, rs794726808, rs794726716, rs121917971, rs794726718, rs794726721, rs794726761, rs794726815, rs794726786, rs794726787, rs794726697, rs794726775, rs794726712, rs794726794, rs794726738, rs794726805, rs767045134, rs794726820, rs794726766, rs794726750, rs794726743, rs794726742, rs794726795, rs794726730, rs794726806, rs794726747, rs794726838, rs794726778, rs794726834, rs794726736, rs794726704, rs794726773, rs794726749, rs794726717, rs794726790, rs794726829, rs794726807, rs794726810, rs121917989, rs794726826, rs794726725, rs794726818, rs794726776, rs794726777, rs794726765, rs794726753, rs794726732, rs794726799, rs794726695, rs794726792, rs794726767, rs794726768, rs794726844, rs794726782, rs794726797, rs794726843, rs794726798, rs794726824, rs794726837, rs794726846, rs794726788, rs794726847, rs794726812, rs794726771, rs794726751, rs773407463, rs794726755, rs794726719, rs794726724, rs794726833, rs794726827, rs1553551314, rs794726840, rs794726849, rs794726764, rs794726803, rs794726831, rs794726711, rs794726793, rs760361423, rs794726796, rs794726762, rs35595680, rs764444350, rs794726848, rs786205214, rs794729200, rs794729207, rs796053029, rs796053014, rs796053010, rs796053004, rs796053001, rs796052973, rs779184118, rs781746113, rs796052961, rs796052957, rs863225037, rs863225036, rs863225035, rs863225034, rs863225033, rs863225032, rs863225030, rs863225038, rs863225031, rs869312670, rs869312684, rs886039430, rs121917959, rs886041980, rs886042528, rs781507889, rs1057517959, rs1057518671, rs1057519533, rs1057519534, rs1057519530, rs1057519531, rs1060502189, rs1064794766, rs748759187, rs368609628, rs1553345874, rs121918795, rs1266877537, rs1553266166, rs1553522321, rs1553543215, rs1553525325, rs1553520530, rs1553544470, rs1553551493, rs1553553462, rs1553560831, rs201966711, rs537026414, rs1559101839, rs1559114303, rs1559149128, rs1553553527, rs1569006250, rs781657502, rs1574370981, rs1366966423, rs1574312497, rs796053036, rs1573949198, rs1573953706, rs1573963975, rs1573973548, rs1573984110, rs1574005699, rs1574007140, rs1574052179, rs1574069132, rs1574166948, rs1574168611, rs1574183148, rs886041292, rs1574208760, rs1574209023, rs1574217232, rs1553545567, rs796053094, rs1574240716, rs1553549471, rs1574264920, rs1574266816, rs1574271602, rs1574271644, rs1574291210, rs1574371141, rs1574371902, rs796052488, rs1581220163, rs1196223064, rs1574182550, rs1573953030, rs1574201555, rs1581829739, rs1574281711, rs1696401617, rs1692166604, rs1574006637, rs1689139851, rs1689186812, rs1689309551, rs1689680658, rs1697997770, rs1698732089, rs1698941202, rs1697667767, rs1691073965, rs1698009615	25401298
Nystagmus	Nystagmus, Nystagmus, End-Position	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
Parkinson disease	Parkinsonian Disorders	rs116074753, rs118203903, rs118203904, rs115735611, rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs74315361, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121917767, rs121918104, rs1589451049, rs104893877, rs104893878, rs283413, rs112176450, rs111290936, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, rs387906942, rs397514694, rs398122403, rs398122404, rs398122405, rs104886460, rs409652, rs431905511, rs63751392, rs756677845, rs864309527, rs864309650, rs750014782, rs1554391082, rs864622011, rs869312810, rs869312809, rs869312811, rs369100678, rs879253853, rs869320761, rs747506979, rs879255630, rs886039854, rs191486604, rs781442277, rs1060499619, rs751037529, rs55777503, rs768091663, rs34208370, rs1553122929, rs772786691, rs754809877, rs1555907463, rs1557561340, rs781600849, rs141263564, rs1557901552, rs777160388, rs756783990, rs867929413, rs1237637353, rs1005937012, rs755000580, rs747427602, rs1578089802, rs771586218, rs748142049, rs1582953433, rs746646126, rs771529549, rs121918106
Seizure	Tonic - clonic seizures	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130
Spastic ataxia	Spastic Ataxia, SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE	rs72555372, rs74315473, rs281865117, rs281865118, rs137853016, rs2137634136, rs137853017, rs606231163, rs137853018, rs137853019, rs2137724246, rs2137716138, rs267606900, rs387906889, rs281865120, rs397509404, rs386833661, rs386834157, rs1553608221, rs587777197, rs587777198, rs886041035, rs199474695, rs199474696, rs727502823, rs727503785, rs762947018, rs786204628, rs141315518, rs786204416, rs786204750, rs770866403, rs775059063, rs753962912, rs143441644, rs786205598, rs797045936, rs780247476, rs797045937, rs797044608, rs752623413, rs876657721, rs876657720, rs878854975, rs1131690773, rs752059006, rs202199411, rs886041949, rs757872635, rs1057517123, rs747868017, rs1057517294, rs1057516347, rs1057517232, rs565203731, rs753205260, rs1057516398, rs1057516856, rs756597098, rs1057516578, rs1057516773, rs1057517002, rs779338945, rs755186798, rs1057517250, rs1057517383, rs1057516464, rs1057517349, rs1057516875, rs1057517060, rs765992922, rs1057516853, rs1057517020, rs753012964, rs1057517212, rs1057517014, rs758572409, rs1057516959, rs1057516438, rs1057517451, rs747676277, rs145766983, rs1057516689, rs1057517222, rs1057517301, rs1057516932, rs1057516635, rs1057516295, rs1057517366, rs1057517099, rs759166250, rs1057517138, rs761089024, rs1057517172, rs1057517297, rs1057517311, rs1057517305, rs1057516580, rs1057516285, rs780197970, rs1057516294, rs1057516930, rs1057516779, rs1057516222, rs1057517039, rs1057516551, rs1057516767, rs766457071, rs1057517034, rs1057516624, rs1057516829, rs1057517437, rs1057517285, rs1057516554, rs1057516224, rs1057516543, rs1057516406, rs1057516365, rs1057516625, rs1057516987, rs1057517242, rs1057516820, rs1057516837, rs771943685, rs764254189, rs747779231, rs1060499656, rs371019314, rs1060503431, rs774906736, rs1064796693, rs1555251539, rs754439135, rs767871841, rs867249938, rs1440541889, rs776825296, rs1156566314, rs1160357920, rs773182375, rs1372213267, rs374128662, rs1360298758, rs1555250160, rs1555252345, rs923921184, rs1259615333, rs1555249276, rs1555249425, rs1555249479, rs1555249555, rs1555249662, rs1555249977, rs1555250016, rs1555250183, rs1555250191, rs1555250642, rs1555250949, rs1555251301, rs1555251553, rs201690040, rs1214399996, rs1555251905, rs1408290451, rs1555251935, rs1555252349, rs1555252359, rs1555252388, rs1555252448, rs1555252465, rs1555252518, rs1555252545, rs959856535, rs1555252611, rs1555252634, rs1167474602, rs1175545518, rs1417057515, rs1555249338, rs1555249460, rs1555249599, rs1555249633, rs1555249648, rs1555249745, rs1555249789, rs1555249797, rs1555249878, rs1400601705, rs1555249966, rs1555250383, rs1555250987, rs1555251007, rs1555251428, rs1555251514, rs1555251840, rs1555251853, rs1555251990, rs1555252086, rs1555252458, rs1555252531, rs1555252786, rs1555252844, rs1555252876, rs1555252928, rs745961541, rs1555252929, rs745907077, rs753277514, rs1555254489, rs1555249326, rs1555249371, rs1555249695, rs1555249766, rs1555249826, rs1555249881, rs1555249894, rs1555249904, rs1555250022, rs1555250082, rs1555250508, rs1555250557, rs1555250684, rs1555250872, rs1279988199, rs1555251241, rs1555251254, rs1028098148, rs140034972, rs1555251421, rs1555251699, rs766711286, rs1555251944, rs1555251960, rs1555252113, rs1555252142, rs1485885260, rs1555252184, rs1459899547, rs1555252926, rs1555252944, rs1555254734, rs1555249607, rs1555250255, rs1555250359, rs1555250395, rs1555250653, rs1555250991, rs1555251015, rs1240368715, rs1555251151, rs1555251615, rs1555251818, rs1555251963, rs1485209013, rs1555252055, rs1188844823, rs1555252148, rs1555252587, rs1555252623, rs144267558, rs142037771, rs1555252953, rs1555254439, rs1555251822, rs1555255676, rs1567721108, rs1006060877, rs746220436, rs1566069517, rs1310569366, rs751568153, rs1181477970, rs1593129673, rs1593133395, rs994374354, rs1593121924, rs770490672, rs1593133306, rs1593121484, rs780184251, rs1581504953, rs1131040, rs1581505917, rs1593145590, rs1326359185, rs543422544, rs1593123432, rs772704931, rs753958013, rs927804920, rs1883405453, rs1868872666, rs769212398, rs757179309, rs772475828	30544562, 22022284, 27165006, 22964162, 27604308

Unknown
Disease name	Disease term	dbSNP ID	References
Cerebellar atrophy	Cerebellar atrophy
Cerebellar hypoplasia	Cerebellar Hypoplasia
Demyelinating neuropathy	Peripheral demyelinating neuropathy
Distal amyotrophy	Distal amyotrophy	rs1457770815
Dysarthria	Dysarthria
Dysphagia	Deglutition Disorders		20725928
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis		20725928
Hiatal hernia	Hiatal Hernia		20725928
Inclusion-body disease	Atypical Inclusion-Body Disease		25401298
Keratoconjunctivitis sicca	Keratoconjunctivitis Sicca		20725928
Macular degeneration	Macular degeneration	rs376633374, rs41292677, rs1800555, rs61750126, rs1801581, rs641153, rs12614, rs4151667, rs1049331, rs2293870, rs4147830, rs3112831, rs4147831, rs1553193877, rs61752395, rs61749417, rs61749440, rs61754033, rs61754034, rs17110922, rs61750129, rs1801666, rs1800549, rs1801466, rs1801574, rs4147857, rs1800739, rs56142141, rs1801359, rs61748519, rs17110761, rs1801555, rs6657239, rs1800717, rs77293072, rs6666652, rs17624021, rs2228528, rs2228524, rs2229760, rs2228526, rs2228527, rs4253211, rs4253013, rs2228529, rs154001, rs27713, rs190450, rs2275029, rs1762114, rs570745701, rs147884766, rs2042327, rs76258939, rs200060005, rs149054177, rs113106943, rs139007661, rs61760163, rs4253132, rs281865386, rs145525174, rs145720191, rs4253027, rs557212203, rs746570981, rs149101394, rs45484591, rs4253047, rs368846708, rs143263315, rs201602424, rs201150919, rs148095899, rs55860151, rs140482171, rs55698015, rs199910288, rs545770705, rs752517345, rs375820274, rs145772673, rs201927661, rs886045744, rs200156765, rs573119781, rs200897962, rs397961020, rs886045695, rs759638529, rs759693498, rs780673178, rs771757920, rs146952459, rs55665437, rs200946608, rs202127235, rs886046562, rs114518437, rs754531924, rs138831474, rs190370456, rs145766145, rs62642572, rs374630957, rs775661924, rs138246242, rs886046566, rs886046567, rs886046568, rs567985213, rs201160433, rs202199507, rs374196141, rs142673376, rs763857670, rs75092434, rs76305791, rs180921875, rs766512063, rs538804441, rs761867791, rs191506332, rs886046560, rs774957381, rs761989194, rs746468013, rs75267647, rs886046565, rs147135304, rs770439859, rs185225547, rs148091207, rs3747961, rs773349580, rs76201551, rs886046559, rs886046561, rs758825834, rs886046563, rs886046564, rs141004967, rs762213896, rs370967816, rs138157885, rs376624031, rs372976742, rs200102393, rs201336507, rs142243595, rs145988012, rs573509224, rs72842444, rs796979529, rs117314762, rs767428982, rs4151650, rs537478097, rs144812066, rs4151651, rs117905900, rs150920440, rs761050063, rs201798809, rs886061297, rs749158582, rs45476300, rs201711512, rs9332730, rs747202032, rs1048709, rs4151670, rs2072634, rs116928087, rs45507391, rs201806170, rs567255004, rs755016493, rs138236643, rs4151669, rs201659953, rs138207668, rs886061296, rs4151672, rs36221133, rs886061295, rs753831049, rs45600936, rs4151659, rs188688680, rs375895797, rs7088128, rs369018824, rs2672602, rs886046772, rs541204010, rs757237545, rs202167109, rs2672586, rs28665753, rs557944846, rs117289374, rs542053472, rs4253234, rs886047032, rs2229761, rs4253004, rs529644268, rs4752698, rs2672603, rs550039968, rs144118239, rs147228327, rs3750751, rs759125039, rs761802751, rs554513888, rs2272599, rs886046773, rs555692792, rs541533723, rs369149111, rs190036021, rs114877122, rs149294320, rs11538140, rs562876149, rs557832376, rs4253231, rs35365613, rs4253005, rs114183603, rs11101137, rs189942338, rs74561842, rs886047036, rs766986601, rs886054364, rs140718871, rs145108467, rs556678788, rs184393277, rs886054365, rs138512126, rs753823753, rs886054652, rs886054654, rs528697923, rs143816706, rs886054653, rs775843240, rs150444854, rs752201545, rs140088745, rs139620409, rs374675648, rs1561760487, rs996483189, rs754645487	20725928
May-white syndrome	May-White Syndrome		25401298
Mental depression	Depressive disorder	rs587778876, rs587778877
Myoclonic seizures	Generalized myoclonic seizures
Oculomotor apraxia	Oculomotor apraxia
Oculovestibuloauditory syndrome	Oculovestibuloauditory syndrome
Osteopenia	Osteopenia		20725928
Parotitis	Parotitis		20725928
Peripheral axonal neuropathy	Peripheral axonal neuropathy	rs202219507, rs529035174, rs758974790, rs70983380, rs761291489, rs1579721449, rs1572614757, rs777077185
Ptosis	Blepharoptosis, Ptosis	rs139920573
Sensorimotor neuropathy	Sensorimotor neuropathy
Spastic ataxia-myoclonic epilepsy-neuropathy syndrome	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
Vitamin d deficiency	Vitamin D Deficiency		20725928