VPS13A (vacuolar protein sorting 13 homolog A)

Gene

• Entrez ID: 23230
• Gene name: Vacuolar protein sorting 13 homolog A
• Gene symbol: VPS13A
• Synonyms: BLTP5A, CHAC, CHOREIN
• Chromosome: 9
• Chromosome location: 9q21.2
• Summary: The protein encoded by this gene may control steps in the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane. Mutations in this gene cause the autosomal recessive disorder, chorea-acanthocytosis. Alternativ

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs41289961	C>A,G	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs41289967	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs41307461	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs119477052	T>A,C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs119477053	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs148656796	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, coding sequence variant
rs149694033	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs149840356	A>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs200280742	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs372141290	G>A	Likely-pathogenic	Splice donor variant
rs761923202	G>A,T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant, stop gained
rs764376151	C>A,G,T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, synonymous variant, missense variant
rs771004767	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs779746050	->AC	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs780664594	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs951347128	->T	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1037030970	A>T	Likely-pathogenic	Splice acceptor variant
rs1057520049	G>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1085307750	AG>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs1085307823	G>A	Pathogenic	Splice donor variant
rs1193250444	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1409849850	A>C,T	Pathogenic	Stop gained, coding sequence variant, missense variant, non coding transcript variant
rs1554879059	T>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1563974797	GG>-	Pathogenic	Intron variant
rs1564721202	->G	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1587358566	A>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1587612257	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1587628060	A>T	Likely-pathogenic	Splice acceptor variant
rs1587653832	G>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1589994032	TTTA>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1590003601	G>A	Pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030908	hsa-miR-21-5p	Microarray	18591254
MIRT046430	hsa-miR-15b-5p	CLASH	23622248
MIRT717782	hsa-miR-138-2-3p	HITS-CLIP	19536157
MIRT717781	hsa-miR-1301-5p	HITS-CLIP	19536157
MIRT717780	hsa-miR-6502-5p	HITS-CLIP	19536157
MIRT717779	hsa-miR-4326	HITS-CLIP	19536157
MIRT717778	hsa-miR-7111-3p	HITS-CLIP	19536157
MIRT717777	hsa-miR-6780a-3p	HITS-CLIP	19536157
MIRT717776	hsa-miR-6881-3p	HITS-CLIP	19536157
MIRT717782	hsa-miR-138-2-3p	HITS-CLIP	19536157
MIRT717781	hsa-miR-1301-5p	HITS-CLIP	19536157
MIRT717780	hsa-miR-6502-5p	HITS-CLIP	19536157
MIRT717779	hsa-miR-4326	HITS-CLIP	19536157
MIRT717778	hsa-miR-7111-3p	HITS-CLIP	19536157
MIRT717777	hsa-miR-6780a-3p	HITS-CLIP	19536157
MIRT717776	hsa-miR-6881-3p	HITS-CLIP	19536157
MIRT717782	hsa-miR-138-2-3p	HITS-CLIP	19536157
MIRT717781	hsa-miR-1301-5p	HITS-CLIP	19536157
MIRT717780	hsa-miR-6502-5p	HITS-CLIP	19536157
MIRT717779	hsa-miR-4326	HITS-CLIP	19536157
MIRT717778	hsa-miR-7111-3p	HITS-CLIP	19536157
MIRT717777	hsa-miR-6780a-3p	HITS-CLIP	19536157
MIRT717776	hsa-miR-6881-3p	HITS-CLIP	19536157
MIRT717782	hsa-miR-138-2-3p	HITS-CLIP	19536157
MIRT717781	hsa-miR-1301-5p	HITS-CLIP	19536157
MIRT717780	hsa-miR-6502-5p	HITS-CLIP	19536157
MIRT717779	hsa-miR-4326	HITS-CLIP	19536157
MIRT717778	hsa-miR-7111-3p	HITS-CLIP	19536157
MIRT717777	hsa-miR-6780a-3p	HITS-CLIP	19536157
MIRT717776	hsa-miR-6881-3p	HITS-CLIP	19536157
MIRT1485881	hsa-miR-1267	CLIP-seq
MIRT1485882	hsa-miR-132	CLIP-seq
MIRT1485883	hsa-miR-137	CLIP-seq
MIRT1485884	hsa-miR-154	CLIP-seq
MIRT1485885	hsa-miR-182	CLIP-seq
MIRT1485886	hsa-miR-1827	CLIP-seq
MIRT1485887	hsa-miR-18a	CLIP-seq
MIRT1485888	hsa-miR-18b	CLIP-seq
MIRT1485889	hsa-miR-19a	CLIP-seq
MIRT1485890	hsa-miR-19b	CLIP-seq
MIRT1485891	hsa-miR-2117	CLIP-seq
MIRT1485892	hsa-miR-212	CLIP-seq
MIRT1485893	hsa-miR-219-2-3p	CLIP-seq
MIRT1485894	hsa-miR-28-5p	CLIP-seq
MIRT1485895	hsa-miR-3120-5p	CLIP-seq
MIRT1485896	hsa-miR-3139	CLIP-seq
MIRT1485897	hsa-miR-3147	CLIP-seq
MIRT1485898	hsa-miR-3156-5p	CLIP-seq
MIRT1485899	hsa-miR-34b	CLIP-seq
MIRT1485900	hsa-miR-369-3p	CLIP-seq
MIRT1485901	hsa-miR-374c	CLIP-seq
MIRT1485902	hsa-miR-3940-5p	CLIP-seq
MIRT1485903	hsa-miR-4425	CLIP-seq
MIRT1485904	hsa-miR-4426	CLIP-seq
MIRT1485905	hsa-miR-4477a	CLIP-seq
MIRT1485906	hsa-miR-4507	CLIP-seq
MIRT1485907	hsa-miR-455-3p	CLIP-seq
MIRT1485908	hsa-miR-4647	CLIP-seq
MIRT1485909	hsa-miR-4649-3p	CLIP-seq
MIRT1485910	hsa-miR-4662b	CLIP-seq
MIRT1485911	hsa-miR-4698	CLIP-seq
MIRT1485912	hsa-miR-4704-5p	CLIP-seq
MIRT1485913	hsa-miR-4735-3p	CLIP-seq
MIRT1485914	hsa-miR-4753-3p	CLIP-seq
MIRT1485915	hsa-miR-4781-3p	CLIP-seq
MIRT1485916	hsa-miR-494	CLIP-seq
MIRT1485917	hsa-miR-513c	CLIP-seq
MIRT1485918	hsa-miR-514b-5p	CLIP-seq
MIRT1485919	hsa-miR-518a-5p	CLIP-seq
MIRT1485920	hsa-miR-527	CLIP-seq
MIRT1485921	hsa-miR-655	CLIP-seq
MIRT1485922	hsa-miR-671-5p	CLIP-seq
MIRT1485923	hsa-miR-708	CLIP-seq
MIRT1485924	hsa-miR-885-5p	CLIP-seq
MIRT1485925	hsa-miR-889	CLIP-seq
MIRT1485926	hsa-miR-186	CLIP-seq
MIRT1485927	hsa-miR-3133	CLIP-seq
MIRT2146073	hsa-miR-3163	CLIP-seq
MIRT2146074	hsa-miR-330-3p	CLIP-seq
MIRT2146075	hsa-miR-3607-5p	CLIP-seq
MIRT2146076	hsa-miR-548an	CLIP-seq
MIRT1485911	hsa-miR-4698	CLIP-seq
MIRT1485916	hsa-miR-494	CLIP-seq
MIRT2695022	hsa-miR-129-5p	CLIP-seq
MIRT2695023	hsa-miR-33a	CLIP-seq
MIRT2695024	hsa-miR-33b	CLIP-seq
MIRT2695025	hsa-miR-4477b	CLIP-seq
MIRT1485916	hsa-miR-494	CLIP-seq
MIRT2695026	hsa-miR-499a-5p	CLIP-seq
MIRT2695027	hsa-miR-586	CLIP-seq
MIRT2695028	hsa-miR-617	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	17474147, 30709847, 30741634
GO:0005741	Component	Mitochondrial outer membrane	IDA	30741634
GO:0005765	Component	Lysosomal membrane	IDA	30709847
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	30709847, 30741634
GO:0005794	Component	Golgi apparatus	ISS
GO:0005811	Component	Lipid droplet	IDA	30709847, 30741634
GO:0005829	Component	Cytosol	IEA
GO:0006623	Process	Protein targeting to vacuole	IBA	21873635
GO:0006895	Process	Golgi to endosome transport	NAS	11381253
GO:0006914	Process	Autophagy	IBA	21873635
GO:0006914	Process	Autophagy	IMP	25996471
GO:0007399	Process	Nervous system development	IEA
GO:0007626	Process	Locomotory behavior	IEA
GO:0008104	Process	Protein localization	NAS	11381254
GO:0010008	Component	Endosome membrane	IDA	30709847
GO:0019898	Component	Extrinsic component of membrane	IBA	21873635
GO:0019898	Component	Extrinsic component of membrane	IDA	30741634
GO:0030317	Process	Flagellated sperm motility	IEA
GO:0030382	Process	Sperm mitochondrion organization	IEA
GO:0031966	Component	Mitochondrial membrane	IDA	30709847
GO:0035176	Process	Social behavior	IEA
GO:0045053	Process	Protein retention in Golgi apparatus	IBA	21873635
GO:0097225	Component	Sperm midpiece	IEA
GO:0099013	Component	Neuronal dense core vesicle lumen	ISS
GO:1905146	Process	Lysosomal protein catabolic process	IMP	30709847

Other IDs

• MIM: 605978
• HGNC: 1908
• e!Ensembl: ENSG00000197969

Protein

• UniProt ID: Q96RL7
• Protein name: Intermembrane lipid transfer protein VPS13A (Chorea-acanthocytosis protein) (Chorein) (Vacuolar protein sorting-associated protein 13A)
• Protein function: Mediates the transfer of lipids between membranes at organelle contact sites (By similarity). Binds phospholipids (PubMed:34830155). Required for the formation or stabilization of ER-mitochondria contact sites which enable transfer of lipids bet
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12624	Chorein_N	3 → 117	N-terminal region of Chorein or VPS13	Family
  PF16908	VPS13	139 → 371	Vacuolar sorting-associated protein 13, N-terminal	Family
  PF16910	VPS13_mid_rpt	569 → 793	Repeating coiled region of VPS13	Repeat
  PF16910	VPS13_mid_rpt	1143 → 1335	Repeating coiled region of VPS13	Repeat
  PF06650	SHR-BD	2207 → 2456	SHR-binding domain of vacuolar-sorting associated protein 13	Family
  PF16909	VPS13_C	2764 → 2943	Vacuolar-sorting-associated 13 protein C-terminal	Family
  PF09333	ATG_C	2946 → 3037	Autophagy-related protein C terminal domain	Family

• Sequence:

  MVFESVVVDVLNRFLGDYVVDLDTSQLSLGIWKGAVALKNLQIKENALSQLDVPFKVKVG
  HIGNLKLIIPWKNLYTQPVEAVLEEIYLLIVPSSRIKYDPLKEEKQLMEAKQQELKRIEE
  AKQKVVDQEQHLPEKQDTFAEKLVTQIIKNLQVKISSIHIRYEDDITNRDKPLSFGISLQ
  NLSMQTTDQYWVPCLHDETEKLVRKLIRLDNLFAYWNVKSQMFYLSDYDNSLDDLKNGIV
  NENIVPEGYDFVFRPISANAKLVMNRRSDFDFSAPKINLEIELHNIAIEFNKPQYFSIME
  LLESVDMMAQNLPYRKFKPDVPLHHHAREWWAYAIHGVLEVNVCPRLWMWSWKHIRKHRQ
  KVKQYKELYKKKLTSKKPPGELLVSLEELEKTLDVFNITIARQTAEVEVKKAGYKIYKEG
  VKDPEDNKGWFSWLWSWSEQNTNEQQPDVQPETLEEMLTPEEKALLYEAIGYSETAVDPT
  LLKTFEALKFFVHLKSMSIVLRENHQKPELVDIVIEEFSTLIVQRPGAQAIKFETKIDSF
  HITGLPDNSEKPRLLSSLDDAMSLFQITFEINPLDETVSQRCIIEAEPLEIIYDARTVNS
  IVEFFRPPKEVHLAQLTAATLTKLEEFRSKTATGLLYIIETQKVLDLKINLKASYIIVPQ
  DGIFSPTSNLLLLDLGHLKVTSKSRSELPDVKQGEANLKEIMDRAYDSFDIQLTSVQLLY
  SRVGDNWREARKLSVSTQHILVPMHFNLELSKAMVFMDVRMPKFKIYGKLPLISLRISDK
  KLQGIMELIESIPKPEPVTEVSAPVKSFQIQTSTSLGTSQISQKIIPLLELPSVSEDDSE
  EEFFDAPCSPLEEPLQFPTGVKSIRTRKLQKQDCSVNMTTFKIRFEVPKVLIEFYHLVGD
  CELSVVEILVLGLGAEIEIRTYDLKANAFLKEFCLKCPEYLDENKKPVYLVTTLDNTMED
  LLTLEYVKAEKNVPDLKSTYNNVLQLIKVNFSSLDIHLHTEALLNTINYLHNILPQSEEK
  SAPVSTTETEDKGDVIKKLALKLSTNEDIITLQILAELSCLQIFIQDQKCNISEIKIEGL
  DSEMIMRPSETEINAKLRNIIVLDSDITAIYKKAVYITGKEVFSFKMVSYMDATAGSAYT
  DMNVVDIQVNLIVGCIEVVFVTKFLYSILAFIDNFQAAKQALAEATVQAAGMAATGVKEL
  AQRSSRMALDINIKAPVVVIPQSPVSENVFVADFGLITMTNTFHMITESQSSPPPVIDLI
  TIKLSEMRLYRSRFINDAYQEVLDLLLPLNLEVVVERNLCWEWYQEVPCFNVNAQLKPME
  FILSQEDITTIFKTLHGNIWYEKDGSASPAVTKDQYSATSGVTTNASHHSGGATVVTAAV
  VEVHSRALLVKTTLNISFKTDDLTMVLYSPGPKQASFTDVRDPSLKLAEFKLENIISTLK
  MYTDGSTFSSFSLKNCILDDKRPHVKKATPRMIGLTVGFDKKDMMDIKYRKVRDGCVTDA
  VFQEMYICASVEFLQTVANVFLEAYTTGTAVETSVQTWTAKEEVPTQESVKWEINVIIKN
  PEIVFVADMTKNDAPALVITTQCEICYKGNLENSTMTAAIKDLQVRACPFLPVKRKGKIT
  TVLQPCDLFYQTTQKGTDPQVIDMSVKSLTLKVSPVIINTMITITSALYTTKETIPEETA
  SSTAHLWEKKDTKTLKMWFLEESNETEKIAPTTELVPKGEMIKMNIDSIFIVLEAGIGHR
  TVPMLLAKSRFSGEGKNWSSLINLHCQLELEVHYYNEMFGVWEPLLEPLEIDQTEDFRPW
  NLGIKMKKKAKMAIVESDPEEENYKVPEYKTVISFHSKDQLNITLSKCGLVMLNNLVKAF
  TEAATGSSADFVKDLAPFMILNSLGLTISVSPSDSFSVLNIPMAKSYVLKNGESLSMDYI
  RTKDNDHFNAMTSLSSKLFFILLTPVNHSTADKIPLTKVGRRLYTVRHRESGVERSIVCQ
  IDTVEGSKKVTIRSPVQIRNHFSVPLSVYEGDTLLGTASPENEFNIPLGSYRSFIFLKPE
  DENYQMCEGIDFEEIIKNDGALLKKKCRSKNPSKESFLINIVPEKDNLTSLSVYSEDGWD
  LPYIMHLWPPILLRNLLPYKIAYYIEGIENSVFTLSEGHSAQICTAQLGKARLHLKLLDY
  LNHDWKSEYHIKPNQQDISFVSFTCVTEMEKTDLDIAVHMTYNTGQTVVAFHSPYWMVNK
  TGRMLQYKADGIHRKHPPNYKKPVLFSFQPNHFFNNNKVQLMVTDSELSNQFSIDTVGSH
  GAVKCKGLKMDYQVGVTIDLSSFNITRIVTFTPFYMIKNKSKYHISVAEEGNDKWLSLDL
  EQCIPFWPEYASSKLLIQVERSEDPPKRIYFNKQENCILLRLDNELGGIIAEVNLAEHST
  VITFLDYHDGAATFLLINHTKNELVQYNQSSLSEIEDSLPPGKAVFYTWADPVGSRRLKW
  RCRKSHGEVTQKDDMMMPIDLGEKTIYLVSFFEGLQRIILFTEDPRVFKVTYESEKAELA
  EQEIAVALQDVGISLVNNYTKQEVAYIGITSSDVVWETKPKKKARWKPMSVKHTEKLERE
  FKEYTESSPSEDKVIQLDTNVPVRLTPTGHNMKILQPHVIALRRNYLPALKVEYNTSAHQ
  SSFRIQIYRIQIQNQIHGAVFPFVFYPVKPPKSVTMDSAPKPFTDVSIVMRSAGHSQISR
  IKYFKVLIQEMDLRLDLGFIYALTDLMTEAEVTENTEVELFHKDIEAFKEEYKTASLVDQ
  SQVSLYEYFHISPIKLHLSVSLSSGREEAKDSKQNGGLIPVHSLNLLLKSIGATLTDVQD
  VVFKLAFFELNYQFHTTSDLQSEVIRHYSKQAIKQMYVLILGLDVLGNPFGLIREFSEGV
  EAFFYEPYQGAIQGPEEFVEGMALGLKALVGGAVGGLAGAASKITGAMAKGVAAMTMDED
  YQQKRREAMNKQPAGFREGITRGGKGLVSGFVSGITGIVTKPIKGAQKGGAAGFFKGVGK
  GLVGAVARPTGGIIDMASSTFQGIKRATETSEVESLRPPRFFNEDGVIRPYRLRDGTGNQ
  MLQVMENGRFAKYKYFTHVMINKTDMLMITRRGVLFVTKGTFGQLTCEWQYSFDEFTKEP
  FIVHGRRLRIEAKERVKSVFHAREFGKIINFKTPEDARWILTKLQEAREPSPSL

• Sequence length: 3174

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs120074176, rs786205019
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Colorectal cancer	Colorectal Carcinoma	rs137854568, rs137854573, rs137854575, rs387906234, rs1801155, rs121908380, rs121908702, rs267606674, rs4939827, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800, rs63750198, rs63751109, rs863223312, rs63750710, rs63751615, rs63750206, rs63750781, rs63750899, rs63750691, rs63750217, rs121912965, rs63749939, rs63751194, rs63750693, rs63750540, rs63751221, rs193922370, rs80359596, rs397514632, rs483352909, rs200495564, rs397514684, rs397516436, rs398122386, rs79512956, rs74953290, rs587779001, rs63750677, rs63749837, rs267607816, rs63751715, rs267607819, rs267607815, rs267607822, rs63749906, rs587778883, rs63750472, rs63751012, rs63750715, rs63750580, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs63751015, rs63751153, rs63751094, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs587778909, rs63750713, rs267607825, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607832, rs267607837, rs267607836, rs587778923, rs63750028, rs587778928, rs587778929, rs587778930, rs63751277, rs587778933, rs267607842, rs267607843, rs63750192, rs587778934, rs63750193, rs587778937, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs267607853, rs267607856, rs267607850, rs63751657, rs267607854, rs267607852, rs587778942, rs63750309, rs63750587, rs63749863, rs63751486, rs63750016, rs63749868, rs63750375, rs63750035, rs63750604, rs63750386, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63751594, rs63750152, rs63750850, rs267607867, rs267607868, rs63751632, rs267607871, rs63751892, rs587778956, rs63750469, rs587778958, rs63749792, rs267607875, rs63751255, rs281864938, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs267607878, rs587778966, rs267607883, rs267607887, rs63750061, rs63750663, rs587778968, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607722, rs63750769, rs267607717, rs587778973, rs267607716, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63750499, rs63751642, rs63751022, rs587778981, rs63750971, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs63750437, rs587778997, rs587778998, rs63750005, rs63750641, rs63751421, rs11541859, rs63750266, rs111052004, rs267607726, rs267607727, rs63750453, rs267607734, rs267607735, rs63751665, rs267607736, rs267607732, rs63749816, rs63750539, rs267607739, rs587779006, rs587779008, rs267607745, rs267607742, rs63751595, rs267607743, rs587779010, rs587779012, rs63750057, rs63749818, rs63751124, rs587779014, rs587779015, rs63749820, rs63751302, rs267607750, rs267607751, rs267607749, rs63750891, rs63749959, rs63749804, rs267607765, rs267607760, rs587779021, rs267607759, rs63750515, rs587779023, rs63751021, rs63751480, rs267607772, rs267607773, rs587779024, rs63751653, rs587779027, rs267607767, rs587779029, rs63750706, rs63750385, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs63750823, rs63750822, rs267607787, rs63750303, rs63749839, rs63749827, rs267607789, rs267607790, rs267607791, rs267607786, rs267607771, rs267607795, rs267607794, rs267607788, rs267607799, rs267607801, rs587779045, rs63750034, rs587779047, rs63750216, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750547, rs63750489, rs63750993, rs587779054, rs63751259, rs63749926, rs63750796, rs587779058, rs63750745, rs63750582, rs180177084, rs587779866, rs200389141, rs587779950, rs587780104, rs587780183, rs587778536, rs587780683, rs587781554, rs267607712, rs587777627, rs587783057, rs730881734, rs41542214, rs730881273, rs786203456, rs786201990, rs786202767, rs748005072, rs786204317, rs786204318, rs797045117, rs63750549, rs863225383, rs863225384, rs863225373, rs863225376, rs863225377, rs863225378, rs863225379, rs863225380, rs863225381, rs63750059, rs267607823, rs864622457, rs869312767, rs869312753, rs876661059, rs876658915, rs876658923, rs876660860, rs876660822, rs876660458, rs876660214, rs876658657, rs876658247, rs876659226, rs876658821, rs876660589, rs876659068, rs876659681, rs876659608, rs878853794, rs878853778, rs878853780, rs878853785, rs886039423, rs886039424, rs1057517543, rs1057517541, rs756843954, rs1057517617, rs1057517558, rs1057519256, rs1060500689, rs764085979, rs1060500707, rs1060500699, rs1060500706, rs1060500703, rs1064795341, rs1064793607, rs1064794348, rs1064795441, rs1064794373, rs1064793172, rs1064794122, rs1064795515, rs1064794331, rs63750978, rs1114167435, rs1553641362, rs63751448, rs1553648029, rs1553648058, rs587778903, rs1553653237, rs1553664353, rs267607744, rs1553647995, rs1553648047, rs1553653084, rs1553663750, rs1553664436, rs1553488015, rs1553637293, rs63750310, rs63750443, rs63751596, rs1553646681, rs550890395, rs1064796057, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1434898623, rs1553665683, rs1553648068, rs1553645331, rs1553644123, rs1553658246, rs1553651299, rs1553648149, rs1553663159, rs1302248679, rs1553664119, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664617, rs1553664702, rs1553647969, rs1553648040, rs1437454428, rs1553641273, rs63751101, rs1553646764, rs1553648225, rs1554082118, rs1553648201, rs1553149467, rs1553638868, rs1553665866, rs376736188, rs1553642707, rs1553645226, rs1553652883, rs63751435, rs1553653115, rs1553653195, rs63750300, rs1553662622, rs1553658104, rs1553648220, rs1559544064, rs63750584, rs267608083, rs1559551570, rs1559575107, rs1559553501, rs1565986506, rs1559524405, rs1559553492, rs1559554339, rs1559588540, rs1559558071, rs761329565, rs1559521039, rs1559574795, rs1567221417, rs1559578422, rs1481129490, rs1570714352, rs779783209, rs1575376830, rs1575469070, rs1575537843, rs1575620443, rs1575621506, rs587779022, rs1575414904, rs1575449093, rs1575469505, rs1575536254, rs1575537933, rs1575632112, rs1575639851, rs1575441094, rs1575449402, rs267607831, rs2081922847, rs2083403132, rs2085415927, rs2085469647, rs2043913790, rs147542208
Developmental regression	Developmental regression	rs1224421127
Tourette syndrome	Behavioral tic	rs193302861, rs191284403, rs267606861
Hypertrophic cardiomyopathy	Hypertrophic Cardiomyopathy	rs63750743, rs104894655, rs121908987, rs587776643, rs28938173, rs121908989, rs121908991, rs267606977, rs267606978, rs193922384, rs121909374, rs886041030, rs886041031, rs121909375, rs121909377, rs2856655, rs587776700, rs387906397, rs104894204, rs121434470, rs104894828, rs121964855, rs121964856, rs121964858, rs74315380, rs104894724, rs104894725, rs104894727, rs104894728, rs104894729, rs104894730, rs267607127, rs2147283135, rs267607128, rs267607125, rs104894502, rs104894503, rs104894504, rs28933405, rs111033560, rs121434594, rs80338797, rs104893748, rs104894368, rs104894369, rs104894370, rs121913624, rs3218713, rs121913625, rs121913626, rs121913627, rs121913628, rs121913629, rs121913630, rs121913631, rs121913632, rs121913633, rs121913634, rs3218714, rs121913636, rs121913637, rs121913638, rs121913639, rs121913641, rs121913642, rs121913643, rs121913647, rs121913650, rs121913651, rs36211715, rs121913654, rs267606911, rs267606908, rs730880850, rs121912675, rs267606629, rs193922680, rs1600482909, rs387906898, rs199476398, rs387907079, rs199474815, rs199474703, rs199476305, rs199476306, rs199476315, rs199476316, rs199476317, rs199476321, rs199476311, rs193922649, rs36211723, rs187830361, rs193922383, rs193922386, rs193922390, rs193922697, rs387907267, rs397507520, rs727505017, rs397515888, rs397515889, rs397515891, rs397515893, rs397515894, rs397515895, rs397515896, rs397515897, rs397515903, rs397515905, rs375882485, rs397515907, rs397515910, rs397515912, rs397515916, rs397515920, rs397515925, rs397515926, rs397515931, rs397515933, rs397515934, rs397515935, rs397515937, rs397515942, rs397515943, rs397515944, rs397515947, rs397515948, rs397515952, rs397515954, rs112738974, rs111729952, rs397515960, rs397515963, rs397515965, rs397515966, rs397515970, rs397515972, rs397515973, rs397515974, rs397515975, rs397515977, rs376395543, rs397515979, rs397515982, rs397515987, rs397515990, rs397515991, rs397515992, rs397515995, rs397515997, rs397516001, rs397516005, rs113358486, rs397516006, rs397516007, rs397516008, rs397516010, rs397516013, rs397516014, rs373746463, rs397516019, rs397516020, rs397516022, rs397516023, rs397516029, rs397516031, rs397516032, rs397516035, rs397516037, rs397516038, rs397516040, rs397516042, rs397516044, rs397516047, rs397516049, rs397516052, rs397516056, rs397516057, rs397516058, rs397516059, rs397516061, rs397516067, rs397516068, rs397516070, rs397516072, rs397516073, rs397516074, rs397516076, rs397516077, rs397516080, rs201078659, rs397516082, rs397516083, rs1555122751, rs397516088, rs397516089, rs397516095, rs397516098, rs397516101, rs397516103, rs397516110, rs397516127, rs371898076, rs397516132, rs397516134, rs397516142, rs3218716, rs397516153, rs397516154, rs397516155, rs397516156, rs397516157, rs397516160, rs397516161, rs397516165, rs397516166, rs397516170, rs397516171, rs397516172, rs397516178, rs397516179, rs397516187, rs397516201, rs397516202, rs145213771, rs397516207, rs397516209, rs397516212, rs397516238, rs397516248, rs397516254, rs397516258, rs397516260, rs45516091, rs397516264, rs397516266, rs397516269, rs397516340, rs397516347, rs121917760, rs397516349, rs397516353, rs397516354, rs397516355, rs397516357, rs397516373, rs397516406, rs397516455, rs397516456, rs397516457, rs397516463, rs397516464, rs45525839, rs397516470, rs397516471, rs45578238, rs111377893, rs397516736, rs397516738, rs397516739, rs397516751, rs397516752, rs397516784, rs397517283, rs397514752, rs143697995, rs267607490, rs199472948, rs138193236, rs398123279, rs869320740, rs606231340, rs606231324, rs587779392, rs587779393, rs587782951, rs587782957, rs587782958, rs587782962, rs587782965, rs138049878, rs376897125, rs368765949, rs727504247, rs376923877, rs727504277, rs727504255, rs727504246, rs727504331, rs727503513, rs727504392, rs397516039, rs727504271, rs727504321, rs727504289, rs727504305, rs727503172, rs573821685, rs727503176, rs727503178, rs727504423, rs727503180, rs727504333, rs727503182, rs727504265, rs727503184, rs727503186, rs727503187, rs727504252, rs727504864, rs727504334, rs727503192, rs397515932, rs727504366, rs727504248, rs727504287, rs200411226, rs727503204, rs727504329, rs727504269, rs573916965, rs367947846, rs727503210, rs730880335, rs727503166, rs727504390, rs730880361, rs727504276, rs111683277, rs727503174, rs727503175, rs727504349, rs727504314, rs727504371, rs730880341, rs727504293, rs727503195, rs111437311, rs727503202, rs727503203, rs727504279, rs727505152, rs727503209, rs727503211, rs727503212, rs727503217, rs727503219, rs730880366, rs727503220, rs727504356, rs727504311, rs727503261, rs727503264, rs727504238, rs148808089, rs727503271, rs727504409, rs727503276, rs727504283, rs727503296, rs45544633, rs727503246, rs727503252, rs727503253, rs202141173, rs2754158, rs727504310, rs727503260, rs727504272, rs727504240, rs727503263, rs727504239, rs727504925, rs727504237, rs727504236, rs727505202, rs727504267, rs727503278, rs727504243, rs727504285, rs727503499, rs727503504, rs727504242, rs727504264, rs727504275, rs727503500, rs727503503, rs727503120, rs730880336, rs730880337, rs730880362, rs730880210, rs730880143, rs730880159, rs730881116, rs730881122, rs730880162, rs730880605, rs730880604, rs730880600, rs730880702, rs730880598, rs730880597, rs730880699, rs730880592, rs730880675, rs730880720, rs730880719, rs730880672, rs730880668, rs730880718, rs730880666, rs730880586, rs730880584, rs11570112, rs730880578, rs730880576, rs730880660, rs730880657, rs730880655, rs730880654, rs730880653, rs730880652, rs730880714, rs730880651, rs730880558, rs730880649, rs730880647, rs730880713, rs730880646, rs730880546, rs727503197, rs730880695, rs730880644, rs730880640, rs730880712, rs730880544, rs730880542, rs730880541, rs730880538, rs730880533, rs730880531, rs730880641, rs730880639, rs397515890, rs730880724, rs730880635, rs730880723, rs730880686, rs730880631, rs730880678, rs730880629, rs730880684, rs368121566, rs730880621, rs730880681, rs375607980, rs730880618, rs730880680, rs730880679, rs730880677, rs730880704, rs730880703, rs730880721, rs730880698, rs730880664, rs730880663, rs730880662, rs730880659, rs730880916, rs727504558, rs730880759, rs730880756, rs730880750, rs730880749, rs730880748, rs730880736, rs727504241, rs727504299, rs730880732, rs730880883, rs730880930, rs730880929, rs730880875, rs370310929, rs730880926, rs730880864, rs730880856, rs397516268, rs730880922, rs730880845, rs730880388, rs730881091, rs786204352, rs786204339, rs786204338, rs786204336, rs786204329, rs2069544, rs281865416, rs773317399, rs121913648, rs730880809, rs863224483, rs863224899, rs863224900, rs863225120, rs863225121, rs863225107, rs863225114, rs863225113, rs863225104, rs863225105, rs863225112, rs863225106, rs863225109, rs863225111, rs863225100, rs863225103, rs863225102, rs863225097, rs863225101, rs730880876, rs863225272, rs863225271, rs190228518, rs863225269, rs761507504, rs864622224, rs1057515421, rs869025470, rs869025469, rs869025461, rs869025468, rs869025460, rs869025467, rs869025466, rs869025465, rs869025464, rs869025463, rs869025459, rs869025462, rs727503512, rs876657706, rs876657705, rs876657703, rs876657702, rs727503213, rs876657884, rs878854428, rs878853831, rs878853842, rs1562999443, rs1563003848, rs1562991002, rs879255639, rs886037900, rs886037902, rs886037901, rs886038822, rs886039030, rs886039185, rs754664923, rs141019458, rs1057517766, rs1057517767, rs779650200, rs1057518030, rs1057517711, rs1057519503, rs1057520814, rs1060499673, rs1060501480, rs1060501484, rs1060501481, rs1060501478, rs1064792936, rs1060501475, rs1060501479, rs1064792935, rs1060501436, rs1060501448, rs1060501443, rs1060501452, rs1060505018, rs1060499604, rs781135153, rs1064796231, rs1064793202, rs977277400, rs1064793429, rs771929829, rs745811346, rs1114167419, rs1114167361, rs1555409659, rs1555123389, rs1131691514, rs1131692185, rs1131692058, rs1553279294, rs1555120920, rs1555121924, rs1555338319, rs1555120300, rs1555121488, rs373792537, rs1444727212, rs1555338462, rs1555120937, rs1555123629, rs794727046, rs1555123633, rs1555121172, rs1555123438, rs1555336467, rs1555338658, rs1213930919, rs1432810664, rs1555122188, rs764743402, rs974671846, rs1420159591, rs745688425, rs1555338080, rs200889953, rs1555120258, rs1298025872, rs767039057, rs1555120529, rs1555121247, rs774521272, rs1555122156, rs1555123473, rs1555123496, rs1555123597, rs1555337701, rs2856897, rs869312381, rs1555122928, rs1555123743, rs1554401581, rs1555120651, rs868819340, rs1555122053, rs730880742, rs758891557, rs1555337794, rs1555338378, rs1555338758, rs1245885836, rs1566530698, rs1566513862, rs1565629792, rs730880751, rs727504294, rs1563001548, rs1565622952, rs1565625473, rs1565626409, rs1565627536, rs1565628062, rs1565628486, rs1565631430, rs1391622163, rs1131691685, rs749007293, rs1566535491, rs1565624090, rs1565625777, rs1565631428, rs1568858210, rs1566537070, rs1565627566, rs1567864804, rs1563161306, rs1565622703, rs190765116, rs1595843598, rs1565625795, rs1565628078, rs774316050, rs1565631381, rs1565631424, rs1566531421, rs730880872, rs730880870, rs1566536418, rs1566536436, rs1565623216, rs1265248322, rs113276889, rs1562998062, rs1419032418, rs1565627615, rs1565624196, rs1595843640, rs1595846398, rs764950910, rs1600448065, rs1600462474, rs1417887060, rs1600477808, rs1600480573, rs1050997719, rs1420394583, rs1595840648, rs1595841063, rs1595843549, rs1595843758, rs1595845565, rs1595845888, rs1595846344, rs1595846475, rs1595849931, rs1595070747, rs1246272841, rs730880741, rs1173617248, rs1595085409, rs730880879, rs1299079662, rs1595848628, rs1595849603, rs1450218521, rs1571627587, rs1603037717, rs1603038411, rs1595850762, rs777702465, rs1595841736, rs1595842238, rs1595845204, rs1025692267, rs1595070689, rs1198682781, rs2095879705, rs201911056, rs727504425, rs141414377, rs1596303148, rs1595841206, rs1595844714, rs1595842632, rs1595843828, rs113709679, rs1595841552, rs1595849742, rs754529157, rs1709195189, rs1342121466, rs2095880935, rs2095883508, rs2095884984, rs2095889902, rs2095891411, rs2095898532, rs780625785, rs1892592854, rs1892948780, rs2095879167, rs1956121988, rs2095893477, rs2095894178, rs1801002279, rs1892956157
Liver failure	Liver Failure, Acute	rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116, rs776797592, rs1490906786, rs1562849964, rs759960319, rs776597537, rs375350359, rs1573008071, rs1601977105, rs1174791046, rs1019313682
Myopathy	Myopathy	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166, rs193922856, rs281865489, rs397514675, rs397514676, rs397514677, rs367543058, rs118192117, rs193922837, rs118192129, rs118192143, rs118192153, rs118192133, rs118192156, rs118192149, rs118192148, rs118192183, rs118192147, rs118192123, rs118192127, rs118192142, rs118192144, rs118192178, rs118192151, rs118192150, rs118192184, rs118192154, rs118192134, rs118192155, rs193922893, rs118192132, rs118192146, rs193922867, rs193922884, rs587777528, rs527236030, rs587777672, rs587777673, rs587777674, rs587777675, rs587783343, rs2754158, rs786204796, rs748277951, rs797046047, rs797046064, rs797046060, rs797045479, rs797045931, rs797045932, rs797045934, rs797045935, rs797045477, rs797045478, rs1057518851, rs1057518855, rs1057518773, rs1057518866, rs1555322610, rs1555806119, rs761483896, rs144071404, rs1198364572, rs1568614042, rs978984063, rs1568604308, rs1332371891, rs1601842249, rs777176261, rs1249621033, rs1278804520, rs1568613962, rs1568510406, rs1597512576, rs193922887, rs371455345, rs1603452200, rs1599634685, rs1575065895, rs1575201712, rs139715157, rs1974129338
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
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
Vasculitis	Vasculitis	rs376785840, rs587777240, rs200930463, rs587777241, rs77563738, rs202134424, rs148936893, rs587777242, rs775440641, rs770689762, rs45511697, rs139750129, rs756881285, rs747774101, rs1568966771, rs766602945, rs1601419986, rs1489114116, rs754904956, rs755007390, rs368615054

Unknown
Disease name	Disease term	dbSNP ID	References
Abetalipoproteinemia	Abetalipoproteinemia
Anxiety disorder	Anxiety
Cerebral cortical atrophy	Cerebral cortical atrophy
Chorea	Chorea Acanthocytosis Syndrome		14663054, 11381254, 12404112, 11381253
Choreoacanthocytosis	Choreoacanthocytosis
Distal muscular atrophy	Progressive distal muscular atrophy
Dwarfism	Dwarfism
Dysarthria	Dysarthria
Dysgraphia	Dysgraphia
Dysphagia	Deglutition Disorders
Dyssomnia	Dyssomnias
Orofacial dyskinesia	Lingual-Facial-Buccal Dyskinesia
Malabsorption syndrome	Malabsorption Syndrome
Mood disorder	Mood Disorders		21145924
Mood swings	Mood swings
Nervous system diseases	Peripheral Nervous System Diseases
Psychosis	Psychotic Disorders
Sensory neuropathy	Sensory neuropathy
Sleep disorders	Sleep Disorders