SLC24A1 (solute carrier family 24 member 1)

Gene

• Entrez ID: 9187
• Gene name: Solute carrier family 24 member 1
• Gene symbol: SLC24A1
• Synonyms: CSNB1D, HsT17412, NCKX, NCKX1, RODX
• Chromosome: 15
• Chromosome location: 15q22.31
• Summary: This gene encodes a member of the potassium-dependent sodium/calcium exchanger protein family. The encoded protein plays an important role in sodium/calcium exchange in retinal rod and cone photoreceptors by mediating the extrusion of one calcium ion and

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs766780281	ATCT>-	Pathogenic	Intron variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs777989874	AT>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1410075831	G>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, downstream transcript variant, stop gained
rs1555403793	TCT>-	Pathogenic	Inframe deletion, coding sequence variant, genic upstream transcript variant
rs1555407654	A>C	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1354757	hsa-miR-15a	CLIP-seq
MIRT1354758	hsa-miR-15b	CLIP-seq
MIRT1354759	hsa-miR-16	CLIP-seq
MIRT1354760	hsa-miR-195	CLIP-seq
MIRT1354761	hsa-miR-2116	CLIP-seq
MIRT1354762	hsa-miR-3122	CLIP-seq
MIRT1354763	hsa-miR-3145-3p	CLIP-seq
MIRT1354764	hsa-miR-3157-5p	CLIP-seq
MIRT1354765	hsa-miR-3201	CLIP-seq
MIRT1354766	hsa-miR-325	CLIP-seq
MIRT1354767	hsa-miR-340	CLIP-seq
MIRT1354768	hsa-miR-3681	CLIP-seq
MIRT1354769	hsa-miR-3689a-3p	CLIP-seq
MIRT1354770	hsa-miR-3689c	CLIP-seq
MIRT1354771	hsa-miR-3689d	CLIP-seq
MIRT1354772	hsa-miR-3913-5p	CLIP-seq
MIRT1354773	hsa-miR-424	CLIP-seq
MIRT1354774	hsa-miR-4276	CLIP-seq
MIRT1354775	hsa-miR-4279	CLIP-seq
MIRT1354776	hsa-miR-4297	CLIP-seq
MIRT1354777	hsa-miR-4317	CLIP-seq
MIRT1354778	hsa-miR-4655-5p	CLIP-seq
MIRT1354779	hsa-miR-4677-5p	CLIP-seq
MIRT1354780	hsa-miR-4699-3p	CLIP-seq
MIRT1354781	hsa-miR-4728-5p	CLIP-seq
MIRT1354782	hsa-miR-4791	CLIP-seq
MIRT1354783	hsa-miR-493	CLIP-seq
MIRT1354784	hsa-miR-497	CLIP-seq
MIRT1354785	hsa-miR-550b	CLIP-seq
MIRT1354786	hsa-miR-576-3p	CLIP-seq
MIRT1354787	hsa-miR-587	CLIP-seq
MIRT1354788	hsa-miR-622	CLIP-seq
MIRT1354789	hsa-miR-628-3p	CLIP-seq
MIRT1354790	hsa-miR-942	CLIP-seq
MIRT2105073	hsa-miR-1273e	CLIP-seq
MIRT2105074	hsa-miR-1827	CLIP-seq
MIRT2105075	hsa-miR-2964a-3p	CLIP-seq
MIRT2105076	hsa-miR-302f	CLIP-seq
MIRT2105077	hsa-miR-3650	CLIP-seq
MIRT1354771	hsa-miR-3689d	CLIP-seq
MIRT2105078	hsa-miR-3942-3p	CLIP-seq
MIRT1354778	hsa-miR-4655-5p	CLIP-seq
MIRT2105079	hsa-miR-4722-5p	CLIP-seq
MIRT2105080	hsa-miR-4768-3p	CLIP-seq
MIRT2105081	hsa-miR-513a-3p	CLIP-seq
MIRT2105082	hsa-miR-940	CLIP-seq
MIRT2329654	hsa-miR-1262	CLIP-seq
MIRT2329655	hsa-miR-1283	CLIP-seq
MIRT2329656	hsa-miR-1287	CLIP-seq
MIRT2329657	hsa-miR-146a	CLIP-seq
MIRT2329658	hsa-miR-146b-5p	CLIP-seq
MIRT2329659	hsa-miR-188-3p	CLIP-seq
MIRT2329660	hsa-miR-2054	CLIP-seq
MIRT2329661	hsa-miR-3135b	CLIP-seq
MIRT2329662	hsa-miR-3147	CLIP-seq
MIRT2329663	hsa-miR-3929	CLIP-seq
MIRT2329664	hsa-miR-4289	CLIP-seq
MIRT2329665	hsa-miR-4417	CLIP-seq
MIRT2329666	hsa-miR-4419b	CLIP-seq
MIRT2329667	hsa-miR-4425	CLIP-seq
MIRT2329668	hsa-miR-4478	CLIP-seq
MIRT2329669	hsa-miR-4649-3p	CLIP-seq
MIRT2329670	hsa-miR-4701-3p	CLIP-seq
MIRT2329671	hsa-miR-589	CLIP-seq
MIRT2329672	hsa-miR-616	CLIP-seq
MIRT2329654	hsa-miR-1262	CLIP-seq
MIRT2329657	hsa-miR-146a	CLIP-seq
MIRT2329658	hsa-miR-146b-5p	CLIP-seq
MIRT2329662	hsa-miR-3147	CLIP-seq
MIRT2329664	hsa-miR-4289	CLIP-seq
MIRT2329667	hsa-miR-4425	CLIP-seq
MIRT2329670	hsa-miR-4701-3p	CLIP-seq
MIRT2329671	hsa-miR-589	CLIP-seq
MIRT2329672	hsa-miR-616	CLIP-seq
MIRT2329654	hsa-miR-1262	CLIP-seq
MIRT2329656	hsa-miR-1287	CLIP-seq
MIRT2329657	hsa-miR-146a	CLIP-seq
MIRT2329658	hsa-miR-146b-5p	CLIP-seq
MIRT2329660	hsa-miR-2054	CLIP-seq
MIRT1354762	hsa-miR-3122	CLIP-seq
MIRT2329661	hsa-miR-3135b	CLIP-seq
MIRT2329662	hsa-miR-3147	CLIP-seq
MIRT1354769	hsa-miR-3689a-3p	CLIP-seq
MIRT1354770	hsa-miR-3689c	CLIP-seq
MIRT1354772	hsa-miR-3913-5p	CLIP-seq
MIRT2329667	hsa-miR-4425	CLIP-seq
MIRT1354780	hsa-miR-4699-3p	CLIP-seq
MIRT2329670	hsa-miR-4701-3p	CLIP-seq
MIRT1354781	hsa-miR-4728-5p	CLIP-seq
MIRT2329671	hsa-miR-589	CLIP-seq
MIRT2623933	hsa-miR-200b	CLIP-seq
MIRT2623934	hsa-miR-200c	CLIP-seq
MIRT2623935	hsa-miR-3120-5p	CLIP-seq
MIRT2623936	hsa-miR-3613-3p	CLIP-seq
MIRT2623937	hsa-miR-3664-5p	CLIP-seq
MIRT2623938	hsa-miR-371-5p	CLIP-seq
MIRT2623939	hsa-miR-371b-5p	CLIP-seq
MIRT2623940	hsa-miR-429	CLIP-seq
MIRT2623933	hsa-miR-200b	CLIP-seq
MIRT2623934	hsa-miR-200c	CLIP-seq
MIRT2623935	hsa-miR-3120-5p	CLIP-seq
MIRT2623936	hsa-miR-3613-3p	CLIP-seq
MIRT2623937	hsa-miR-3664-5p	CLIP-seq
MIRT2623938	hsa-miR-371-5p	CLIP-seq
MIRT2623939	hsa-miR-371b-5p	CLIP-seq
MIRT2623940	hsa-miR-429	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005262	Function	Calcium channel activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	17474147
GO:0005886	Component	Plasma membrane	IDA	26631410
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0006811	Process	Ion transport	TAS
GO:0006816	Process	Calcium ion transport	NAS	7539424
GO:0006874	Process	Cellular calcium ion homeostasis	IBA	21873635
GO:0006874	Process	Cellular calcium ion homeostasis	IDA	26631410
GO:0007601	Process	Visual perception	NAS	9856482
GO:0008273	Function	Calcium, potassium:sodium antiporter activity	IBA	21873635
GO:0008273	Function	Calcium, potassium:sodium antiporter activity	IDA	26631410
GO:0008273	Function	Calcium, potassium:sodium antiporter activity	ISS	10662833
GO:0008273	Function	Calcium, potassium:sodium antiporter activity	NAS	9478004
GO:0009642	Process	Response to light intensity	NAS	9856482
GO:0015293	Function	Symporter activity	IEA
GO:0016020	Component	Membrane	TAS	9478004
GO:0019867	Component	Outer membrane	NAS	9856482
GO:0035725	Process	Sodium ion transmembrane transport	IDA	26631410
GO:0043025	Component	Neuronal cell body	ISS	10662833
GO:0044214	Component	Spanning component of plasma membrane	RCA	26631410
GO:0060291	Process	Long-term synaptic potentiation	IBA	21873635
GO:0060292	Process	Long-term synaptic depression	IBA	21873635
GO:0070588	Process	Calcium ion transmembrane transport	IBA	21873635
GO:0070588	Process	Calcium ion transmembrane transport	IDA	26631410
GO:0071805	Process	Potassium ion transmembrane transport	IDA	26631410
GO:0098656	Process	Anion transmembrane transport	IEA
GO:0098703	Process	Calcium ion import across plasma membrane	ISS	10662833

Other IDs

• MIM: 603617
• HGNC: 10975
• e!Ensembl: ENSG00000074621

Protein

• UniProt ID: O60721
• Protein name: Sodium/potassium/calcium exchanger 1 (Na(+)/K(+)/Ca(2+)-exchange protein 1) (Retinal rod Na-Ca+K exchanger) (Solute carrier family 24 member 1)
• Protein function: Calcium, potassium:sodium antiporter that transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+) (PubMed:26631410). Critical component of the visual transduction cascade, controlling the calcium concentration of outer segments during light and d
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01699	Na_Ca_ex	458 → 602	Sodium/calcium exchanger protein	Family
  PF01699	Na_Ca_ex	936 → 1087	Sodium/calcium exchanger protein	Family

• Sequence:

  MGKLIRMGPQERWLLRTKRLHWSRLLFLLGMLIIGSTYQHLRRPRGLSSLWAAVSSHQPI
  KLASRDLSSEEMMMMSSSPSKPSSEMGGKMLVPQASVGSDEATLSMTVENIPSMPKRTAK
  MIPTTTKNNYSPTAAGTERRKEDTPTSSRTLTYYTSTSSRQIVKKYTPTPRGEMKSYSPT
  QVREKVKYTPSPRGRRVGTYVPSTFMTMETSHAITPRTTVKDSDITATYKILETNSLKRI
  MEETTPTTLKGMFDSTPTFLTHEVEANVLTSPRSVMEKNNLFPPRRVESNSSAHPWGLVG
  KSNPKTPQGTVLLHTPATSEGQVTISTMTGSSPAETKAFTAAWSLRNPSPRTSVSAIKTA
  PAIVWRLAKKPSTAPSTSTTPTVRAKLTMQVHHCVVVKPTPAMLTTPSPSLTTALLPEEL
  SPSPSVLPPSLPDLHPKGEYPPDLFSVEERRQGWVVLHVFGMMYVFVALAIVCDEYFVPA
  LGVITDKLQISEDVAGATFMAAGGSAPELFTSLIGVFISHSNVGIGTIVGSAVFNILFVI
  GTCSLFSREILNLTWWPLFRDVSFYILDLIMLILFFLDSLIAWWESLLLLLAYAFYVFTM
  KWNKHIEVWVKEQLSRRPVAKVMALEDLSKPGDGAIAVDELQDNKKLKLPSLLTRGSSST
  SLHNSTIRSTIYQLMLHSLDPLREVRLAKEKEEESLNQGARAQPQAKAESKPEEEEPAKL
  PAVTVTPAPVPDIKGDQKENPGGQEDVAEAESTGEMPGEEGETAGEGETEEKSGGETQPE
  GEGETETQGKGEECEDENEAEGKGDNEGEDEGEIHAEDGEMKGNEGETESQELSAENHGE
  AKNDEKGVEDGGGSDGGDSEEEEEEEEEQEEEEEEEEQEEEEEEEEEEEEKGNEEPLSLD
  WPETRQKQAIYLFLLPIVFPLWLTVPDVRRQESRKFFVFTFLGSIMWIAMFSYLMVWWAH
  QVGETIGISEEIMGLTILAAGTSIPDLITSVIVARKGLGDMAVSSSVGSNIFDITVGLPV
  PWLLFSLINGLQPVPVSSNGLFCAIVLLFLMLLFVISSIASCKWRMNKILGFTMFLLYFV
  FLIISVMLEDRIISCPVSV

• Sequence length: 1099

Pathways

KEGG:

Phototransduction

Reactome:

Sodium/Calcium exchangers
Defective SLC24A1 causes congenital stationary night blindness 1D (CSNB1D)

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Congenital stationary night blindness	Cone-rod synaptic disorder, congenital nonprogressive, Congenital stationary night blindness	rs786205249, rs80338903, rs62638214, rs62638624, rs62638202, rs62638197, rs766862238, rs267607140, rs267607141, rs62638191, rs62638193, rs62637021, rs62637027, rs104894910, rs104894911, rs122456133, rs122456134, rs122456135, rs2147483647, rs104893789, rs104893790, rs104893796, rs121918582, rs104893740, rs80359870, rs387906862, rs786205113, rs772011426, rs281875234, rs794726685, rs387907138, rs773126191, rs770066665, rs794726686, rs397509379, rs397509380, rs61750168, rs281865186, rs281865194, rs150115958, rs786205852, rs786205853, rs786205854, rs778390089, rs869312176, rs879253773, rs879253774, rs886039559, rs886039560, rs886043488, rs1057518829, rs104893793, rs1553186509, rs61751398, rs781463257, rs531851447, rs770380556, rs748046539, rs1555418784, rs1555424166, rs781610444, rs1555424849, rs1555966753, rs1555967281, rs1557106008, rs1557107192, rs1557107417, rs1557108147, rs1557109796, rs1557109912, rs1557110046, rs1557110192, rs1557110499, rs1557110988, rs372529012, rs374913800, rs1410075831, rs766780281, rs1555967031, rs1566945534, rs777989874, rs782581701, rs1485132228, rs1567728372, rs1567725425, rs150441866, rs1358925739, rs779821510, rs1590998813, rs1594580431, rs777168556, rs763546583, rs1290420698, rs765645888, rs1596029830, rs1602180478, rs1602180791, rs1602181006, rs1602181043, rs1602181253, rs1602627593, rs782740998, rs1602630650, rs1602639607, rs1602641426, rs1602644716, rs1602658505, rs1602628429, rs2065841382, rs1596017653, rs769355168, rs1578278438, rs984572250, rs775166854, rs2065717735
Myopia	Severe myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Retinitis pigmentosa	Retinitis Pigmentosa	rs267606794, rs200691042, rs397704718, rs202193201, rs267606793, rs2147483647, rs779886453, rs267606691, rs794728002, rs878853253, rs137853189, rs137853190, rs137853112, rs137853113, rs137853114, rs483352894, rs121908282, rs549625604, rs137852832, rs1587620953, rs104893680, rs587777805, rs386834261, rs104894474, rs104894475, rs28940315, rs387906272, rs202126574, rs267607017, rs80338903, rs397518008, rs111033367, rs121912599, rs80338902, rs111033364, rs111033272, rs121912600, rs587776538, rs111033334, rs80338904, rs121909398, rs119103286, rs587777809, rs121434241, rs121434242, rs121434243, rs121434236, rs121434238, rs121434239, rs121434240, rs267607034, rs267606874, rs267606876, rs267606875, rs1555468634, rs28940869, rs193919337, rs587776589, rs119475042, rs587776590, rs119475043, rs1600344451, rs1600337143, rs587776591, rs121908140, rs1085307049, rs111033258, rs121908142, rs111033267, rs137852959, rs121908175, rs121908178, rs121908179, rs138043021, rs397515359, rs397515360, rs730880273, rs119489105, rs371956016, rs1600169350, rs104894492, rs104894493, rs28937873, rs121912631, rs1567160967, rs886037612, rs137853005, rs62635656, rs62635655, rs62635654, rs28939720, rs137853137, rs62636291, rs62636275, rs281865175, rs104894082, rs869320726, rs869320727, rs104894083, rs869320728, rs121909073, rs121909074, rs121909075, rs121909076, rs1581734819, rs1581742970, rs104894672, rs104894178, rs201578674, rs61751386, rs267607077, rs121918532, rs1567360969, rs137852696, rs104893967, rs61750173, rs118203888, rs62638644, rs62638651, rs62642057, rs62638634, rs62638637, rs137852549, rs606231180, rs606231181, rs62638646, rs2147248070, rs137852550, rs137852284, rs104894925, rs28933687, rs104894926, rs2147081376, rs104894927, rs35689081, rs113624356, rs121917777, rs104893768, rs29001566, rs29001637, rs28933394, rs104893769, rs104893771, rs104893772, rs104893773, rs104893779, rs104893774, rs104893776, rs104893777, rs28933993, rs104893775, rs104893778, rs29001653, rs104893780, rs104893781, rs104893787, rs28933395, rs104893786, rs104893782, rs104893791, rs104893792, rs104893788, rs104893793, rs104893794, rs121918590, rs104893795, rs104893797, rs137853290, rs766278489, rs28933990, rs137853291, rs1598717056, rs121918579, rs121918580, rs730880317, rs121918581, rs1553801591, rs121918583, rs121918576, rs121918577, rs121918578, rs61752895, rs61752871, rs62637004, rs121917744, rs61752909, rs121917745, rs61755777, rs61755806, rs121918563, rs61755793, rs61755792, rs61755816, rs61755786, rs61755771, rs61755794, rs61755783, rs104894459, rs763191889, rs121912550, rs121912552, rs121909599, rs121909600, rs62625014, rs104893736, rs781781440, rs779514800, rs387906646, rs387906648, rs62653011, rs121909835, rs869320618, rs61751399, rs775098953, rs374390376, rs387906971, rs1911001854, rs147394623, rs786200928, rs1064792852, rs387907136, rs387907137, rs387907192, rs376586707, rs201188361, rs387907268, rs747425652, rs1573554264, rs387907314, rs199476194, rs62645748, rs397514574, rs397514575, rs374963432, rs397517964, rs369522997, rs111033379, rs111033264, rs202175091, rs111033265, rs111033418, rs397517973, rs397517974, rs397517976, rs397517977, rs397517978, rs151148854, rs111033518, rs397517983, rs397517984, rs111033385, rs111033417, rs397517988, rs397517989, rs397517990, rs397517994, rs111033273, rs397518003, rs397518010, rs397518011, rs397518013, rs397518014, rs397518018, rs375668376, rs397518021, rs397518022, rs397518023, rs111033386, rs111033268, rs397518029, rs111033280, rs397518036, rs397518039, rs397518041, rs397518043, rs397518046, rs41308425, rs397518048, rs73090721, rs111033263, rs146150511, rs387907367, rs386833717, rs386834012, rs386834019, rs386834024, rs386834152, rs398122391, rs879255568, rs398122960, rs398122961, rs398122962, rs398122963, rs398122964, rs398122525, rs398123298, rs398123336, rs1800728, rs398123538, rs398123575, rs398123576, rs372504780, rs398124544, rs398124618, rs398124619, rs149614625, rs587777086, rs431905521, rs61755781, rs61755785, rs61755787, rs61755796, rs61755800, rs61755805, rs61755807, rs61755810, rs61755817, rs62645935, rs281865373, rs61748433, rs62635002, rs62653030, rs281865304, rs62638633, rs62638645, rs62640589, rs61751276, rs61751281, rs61751282, rs62637006, rs62637007, rs61752873, rs281865285, rs61752883, rs61752884, rs281865286, rs61748550, rs61748558, rs61748559, rs61751385, rs61749409, rs61749414, rs61749418, rs61752401, rs61751263, rs62654397, rs61748526, rs61751395, rs61749433, rs61752407, rs62642570, rs61749451, rs61749459, rs61750065, rs61751398, rs62645946, rs61750137, rs61754044, rs61750140, rs61751402, rs281865377, rs61751388, rs61750152, rs62642574, rs61750155, rs61750567, rs61753023, rs61750571, rs61751406, rs61753029, rs61753030, rs61751389, rs61750639, rs61753043, rs61750653, rs61750654, rs61753046, rs63749055, rs62645958, rs62645944, rs62636511, rs281865168, rs281865171, rs281865166, rs62638179, rs281865188, rs62645754, rs62636264, rs62636266, rs62636267, rs62636273, rs62635659, rs62645752, rs137853923, rs730880283, rs587777272, rs587777273, rs202210819, rs587777376, rs587777377, rs483353056, rs587777599, rs527236085, rs527236089, rs527236091, rs527236088, rs527236090, rs527236097, rs527236098, rs148460146, rs527236101, rs527236100, rs527236102, rs527236062, rs527236055, rs527236056, rs527236109, rs527236108, rs527236111, rs527236112, rs527236092, rs527236059, rs527236058, rs527236077, rs527236072, rs527236075, rs527236073, rs527236065, rs527236074, rs527236071, rs527236068, rs527236069, rs527236078, rs527236066, rs527236076, rs527236070, rs527236067, rs527236082, rs527236060, rs527236061, rs372989281, rs527236079, rs527236116, rs527236087, rs201493928, rs527236105, rs527236083, rs527236134, rs527236096, rs527236113, rs527236114, rs527236086, rs527236094, rs144738703, rs527236095, rs199867882, rs527236099, rs114342808, rs527236139, rs527236137, rs527236127, rs527236124, rs527236126, rs527236125, rs527236121, 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rs875989821, rs781192528, rs386833744, rs746174328, rs797045089, rs752683070, rs770258677, rs797045120, rs376306240, rs368049814, rs770558150, rs797045224, rs863224862, rs863224894, rs759781200, rs771214648, rs372659908, rs201541131, rs869312182, rs869312180, rs869312179, rs758052437, rs869312177, rs869312188, rs869312183, rs869312187, rs1060499536, rs749012133, rs762951570, rs760225886, rs766590491, rs876657733, rs876657731, rs397517963, rs876657730, rs876657718, rs876661403, rs775177930, rs61750138, rs768278935, rs201471607, rs61749427, rs61752398, rs765707028, rs767648174, rs368675850, rs878853407, rs878853413, rs878853410, rs878853354, rs878853353, rs750151209, rs761440783, rs199584830, rs878853350, rs878853349, rs143994166, rs878853327, rs878853328, rs760430056, rs878853394, rs868538598, rs879253768, rs879255547, rs200826424, rs368217569, rs886037911, rs886037947, rs886037948, rs886037949, rs764256655, rs751130485, rs886039450, rs886039449, rs145961131, rs886039422, rs753355844, 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rs1601891967, rs1601892395, rs1601926125, rs1601943227, rs1601943268, rs1601943462, rs1602347792, rs1602349705, rs1603288875, rs754970095, rs1573592124, rs1573607809, rs1578097528, rs781377291, rs781616522, rs1581211727, rs1432643009, rs1167742176, rs1562998089, rs1422250479, rs762276925, rs1596976316, rs1600340117, rs1057520752, rs1601890980, rs62638627, rs1602653742, rs1571523755, rs1571525390, rs140260219, rs1571623023, rs1571170561, rs754899711, rs1572934951, rs1578491064, rs1578860254, rs1302809734, rs1581744084, rs1582764878, rs1584179629, rs1585561400, rs1591277785, rs762326108, rs777420525, rs1238109100, rs62638648, rs1576623563, rs1589420011, rs1597331616, rs201205811, rs763324776, rs770984400, rs760858249, rs748863844, rs770329105, rs772748858, rs1187991259, rs1281095503, rs1231668679, rs767882032, rs1225304963, rs371032798, rs1345460401, rs200387832, rs1293202153, rs1574426870, rs776204925, rs758899480, rs1582079626, rs776564041, rs1602190224, rs751413984, rs769723975, rs1584799745, rs776206391, rs1300041533, rs747512450, rs1571158279, rs561075447, rs1571878277, rs745348555, rs1571557864, rs1450635782, rs62635649, rs1571783742, rs759433119, rs1415484067, rs1415157305, rs752058510, rs1573613491, rs774577413, rs778383770, rs746291728, rs1003615909, rs1578278088, rs1578278417, rs371288618, rs1578281565, rs1578281706, rs373680665, rs1355802816, rs745704627, rs374017889, rs1037963003, rs1577301589, rs1577311264, rs1581164958, rs375659222, rs769824975, rs1582140331, rs902462590, rs983691310, rs1562079278, rs1305702728, rs928803207, rs1583260302, rs1583277585, rs1391928253, rs1583442540, rs1582176424, rs760283610, rs770659908, rs1585564369, rs1246790145, rs1589337745, rs888090139, rs1596997875, rs1597223214, rs1600324262, rs1600324442, rs1439576531, rs1600335289, rs1600337158, rs764232082, rs1600350656, rs1601917999, rs1601922202, rs1601923813, rs1601924184, rs1601947074, rs1601961064, rs1601974881, rs1601978817, rs1601978823, rs1601978925, rs1601982532, rs1602347637, rs1602355025, rs1600334904, rs1572027164, rs111033408, rs1571703801, rs1572827477, rs755429480, rs1600335148, rs1254494198, rs1601922877, rs1601924111, rs1589590737, rs1573627154, rs1573638426, rs778005207, rs1424131846, rs1582929649, rs1572263404, rs1582139965, rs1571848659, rs1571848744, rs1571524269, rs768905244, rs1571540258, rs760544654, rs1571681377, rs1571715796, rs768158580, rs368687374, rs1571805235, rs1557600322, rs1571253050, rs779743222, rs1574489337, rs1285501658, rs369937337, rs774215025, rs1572829514, rs1572875669, rs1316281505, rs1578279746, rs1578280574, rs1578280588, rs377600857, rs1575415957, rs1293620319, rs1578059695, rs759079269, rs1560621807, rs1577288305, rs1581164936, rs1581166539, rs1581217626, rs1581727126, rs1581738478, rs763272975, rs375978676, rs1582139184, rs1582139308, rs1168129071, rs1582146096, rs1582930081, rs1582932583, rs749103801, rs1582376398, rs1584728115, rs1585559122, rs1585563283, rs1585563328, rs1587620892, rs794726954, 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rs1661098509, rs1676223605, rs1676864299, rs748204331, rs1671239184, rs1706625164, rs1706833794, rs1707008452, rs2058802102, rs1717541693, rs1738719686, rs867483436, rs1734061767, rs1736425011, rs1736426982, rs1737229618, rs1737442897, rs1761073125, rs1752838269, rs1754418004, rs1773160727, rs986748364, rs1761908297, rs1488052513, rs1769471082, rs1455826633, rs1766367970, rs1300490966, rs1768038999, rs368159852, rs1766217655, rs1286660951, rs1238921380, rs1784160131, rs886210482, rs1806033536, rs1806033844, rs1806128576, rs1205613982, rs1830219226, rs777019428, rs1555210929, rs1836974640, rs1856758582, rs2036808766, rs1163040913, rs745934202, rs1257334132, rs2054205040, rs2051588436, rs2074970792, rs2073701678, rs2073702243, rs2073704298, rs2073708638, rs2073818085, rs1411470197, rs2073962058, rs2073962186, rs2073964950, rs1314226094, rs2073970897, rs2073971805, rs2067117666, rs2067124487, rs2067127275, rs2067159265, rs2067175855, rs2067180233, rs1854473658, rs2067185063, rs2067191541, rs2067192032, rs2067193671, rs2067194747, rs2067198376, rs2067203546, rs1601943325, rs2067498051, rs2067562201, rs2067845149, rs2067985165, rs2067987832, rs1924521431, rs1924897691, rs1924907742, rs1925391988, rs2037140260, rs2031451980, rs1358947010, rs1470798497, rs1601920131, rs34713174, rs1571948114, rs774677256, rs1581186849, rs1601920532, rs1578280614, rs1601951595, rs1585959862, rs748984657, rs1585963931, rs1572879569, rs201070350, rs1571805164, rs768445391, rs1044562973, rs1572829010, rs768837125, rs1582249186, rs1585569717, rs151141842, rs1600356790, rs778731851, rs369184026, rs1665487563, rs1657798642, rs771260365, rs750321557, rs767328784, rs1662880750, rs1424639717, rs1664846292, rs1667471296, rs769609970, rs2032072206, rs201529124, rs2034899784, rs1364987785, rs1191816747, rs780007963, rs1487540503, rs188492864, rs1688308445, rs1476585944, rs769632183, rs748396645, rs772325487, rs769445913, rs1673040470, rs2063883437, rs2084776162, rs2084776365, rs777851867, rs772867912, rs1476546899, rs145605739, rs759537984, rs141252097, rs754916169, rs748972748, rs1166245419, rs771640639, rs1768367412, rs764362221, rs1050742628, rs1299355731, rs184722374, rs1477705832, rs1561965266, rs761760327, rs1245304444, rs1431710414, rs1767601438, rs1764940309, rs1389794536, rs989589885, rs1769936722, rs1765726534, rs780433094, rs1231321479, rs765035454, rs759505780, rs774264204, rs1924904597, rs776014770, rs1662191792, rs1228475082, rs1772614934, rs1193854376, rs748946491, rs767630412, rs746128841, rs748977292, rs1767600988, rs1769267226, rs373232101, rs1167867158, rs1660515780, rs1664290387, rs866822473, rs963201816, rs1664325377, rs1664671663, rs1558138741, rs1656646221, rs1485393201, rs1657976232, rs1657992342, rs1657997730, rs762070900, rs1660922779, rs1661140054, rs1661687852, rs1662771528, rs1558121260, rs1665132445, rs755032078, rs2032459600, rs769198746, rs2034852728, rs2036054600, rs757154662, rs766370703, rs2038566220, rs1195779037, rs2039690812, rs1362964563, rs1242866408, rs775776288, rs1278226911, rs1238123416, rs1689010156, rs200711686, rs1667504255, rs753619551, rs1558490060, rs866543181, rs770399625, rs1472199114, rs764109533, rs1415160298, rs2084785435, rs1402468701, rs984572250, rs768694789, rs1237954156, rs1737429976, rs373037737, rs759563967, rs751589956, rs774204108, rs1409801782, rs1768346880, rs772549804, rs1431427428, rs1770904723, rs909730457, rs1245121527, rs1767699695, rs1295206142, rs746499646, rs1766006937, rs779372264, rs749460193, rs371886218, rs1488237523, rs1806079331, rs1489149705, rs955766374, rs1210263161, rs2073701307, rs2073926924, rs1342475527, rs2067114709, rs2067115815, rs866524368, rs1186795749, rs2067127718, rs1569235565, rs2067136586, rs2067140471, rs2067144007, rs2067146007, rs1555961509, rs2067157388, rs2067160273, rs2067161139, rs2067163605, rs2067164096, rs2067169934, rs2067170858, rs2067172824, rs2067174697, rs1233849070, rs2067176160, rs2067176379, rs1373833359, rs1601922510, rs2067182354, rs2067182636, rs2067182990, rs2067183162, rs2067184023, rs2067185564, rs2067186632, rs2067186762, rs2067187127, rs2067187550, rs2067187618, rs2067188031, rs2067188111, rs2067190364, rs2067190922, rs2067191154, rs2067191335, rs2067191635, rs1305342570, rs2067193056, rs2067194648, rs1569237670, rs762837543, rs760287363, rs1235430504, rs1371160062, rs2031604509, rs1558244152, rs2034951427, rs912980910, rs1662599697, rs1005130980, rs1334444660, rs898144119, rs1383907349, rs1753232409, rs1769469813, rs1961362638, rs2073798309, rs2073961843, rs1836931186, rs1661659605, rs1645824187, rs1343680080, rs1660517678, rs765676754, rs1366609497, rs1656942613, rs1347261858, rs1685567937, rs1667513233, rs1805984836, rs2073842959, rs2067140574, rs2067148119, rs2067166789, rs2067179633, rs2067200470, rs1924900389, rs2034938852

Unknown
Disease name	Disease term	dbSNP ID	References
Disorder of eye	Disorder of eye
Hypoplasia of optic disc	Hypoplasia of optic disc
Night blindness	Night blindness, congenital stationary, NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A, NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B, NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B (disorder), NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D, Night Blindness, Congenital Stationary, Type 1A, Night blindness, congenital stationary, type 1		20850105
Nyctalopia	Nyctalopia
Strabismus	Strabismus
Congenital stationary night blindness, x-linked	X-Linked Csnb	rs201620180, rs762960396