SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS1553248947 CACNA1S Health Risk Pathogenic/Likely pathogenic Hypokalemic periodic paralysis, type 1
RS1553249076 TPM3 Health Risk Pathogenic/Likely pathogenic Congenital myopathy 4B, autosomal recessive
RS1553249136 PBX1 Health Risk Pathogenic Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears
RS1553249146 PBX1 Health Risk Pathogenic Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears
RS1553249290 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS1553249294 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553249303 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553249311 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS1553249452 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553249704 NDUFS2 Health Risk Likely pathogenic Leber optic atrophy, Leber optic atrophy
RS1553249737 TMCO1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553250050 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553250072 USH2A Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Retinitis pigmentosa 39
RS1553250077 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS1553250150 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553250184 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553250192 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553250416 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS1553250627 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553250786 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553250952 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553251507 PRUNE1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553251644 TPM3 Health Risk Likely pathogenic Congenital myopathy with fiber type disproportion, Congenital myopathy 4B
RS1553251787 CD46 Health Risk Pathogenic/Likely pathogenic Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome
RS1553251903 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1553251907 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1553252041 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553252052 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553252343 USH2A Health Risk Pathogenic —
RS1553252363 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553252388 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS1553252389 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS1553252409 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS1553252469 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553252475 USH2A Health Risk Conflicting classifications of pathogenicity —
RS1553252499 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553252528 USH2A Health Risk Likely pathogenic Usher syndrome, Usher syndrome
RS1553252746 CACNA1S Health Risk Pathogenic Hypokalemic periodic paralysis, type 1
RS1553252938 EMC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cerebellar atrophy
RS1553253022 KIF14 Health Risk Pathogenic Microcephaly 20, primary
RS1553253747 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1553253812 PRUNE1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553253989 SLC25A24 Health Risk Pathogenic Fontaine progeroid syndrome, Fontaine progeroid syndrome
RS1553253990 SLC25A24 Health Risk Pathogenic Fontaine progeroid syndrome, Fontaine progeroid syndrome
RS1553254265 PRUNE1 Health Risk Likely pathogenic —
RS1553254275 CACNA1S Health Risk Pathogenic Hypokalemic periodic paralysis, type 1
RS1553254322 KIF14 Health Risk Likely pathogenic Microcephaly 20, primary
RS1553254475 COA7 Health Risk Likely pathogenic —
RS1553255288 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS1553255293 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Alpha-actinopathy
RS1553255301 ACTA1 Health Risk Likely pathogenic Actin accumulation myopathy, Alpha-actinopathy
RS1553255312 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Alpha-actinopathy
RS1553255354 ACTA1 Health Risk Pathogenic Inborn genetic diseases, Actin accumulation myopathy
RS1553255357 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Progressive scapulohumeroperoneal distal myopathy
RS1553255360 ACTA1 Health Risk Likely pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS1553255361 ACTA1 Health Risk Conflicting classifications of pathogenicity Actin accumulation myopathy, Congenital myopathy 4A
RS1553255362 ACTA1 Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 3, autosomal dominant or recessive
RS1553255432 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS1553255444 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS1553255446 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS1553255479 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS1553255482 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS1553255486 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS1553255501 ACTA1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553255502 ACTA1 Health Risk Likely pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS1553255506 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS1553255521 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Alpha-actinopathy
RS1553255534 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS1553255775 SYT14 Health Risk Likely pathogenic —
RS1553256576 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553256587 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553257236 AP4B1 Health Risk Pathogenic Hereditary spastic paraplegia 47, Hereditary spastic paraplegia 47
RS1553257497 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS1553257498 USH2A Health Risk Pathogenic Retinitis pigmentosa, Usher syndrome type 2A
RS1553257502 USH2A Health Risk Likely pathogenic Usher syndrome, Usher syndrome
RS1553257685 USH2A Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1553257705 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS1553257707 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553257761 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553258031 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS1553258037 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553258076 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553258097 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553258122 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553259060 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS1553259179 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS1553259191 AP4B1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 47, Hereditary spastic paraplegia 47
RS1553259463 AP4B1 Health Risk Pathogenic Inborn genetic diseases, Spastic paraplegia
RS1553259511 MPZ Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, type I
RS1553259528 KIF14 Health Risk Pathogenic Microcephaly 20, primary
RS1553259529 MPZ Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553259536 MPZ Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease type 1B
RS1553259539 KIF14 Health Risk Pathogenic Microcephaly 20, primary
RS1553259566 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS1553259568 MPZ Health Risk Pathogenic Dejerine-Sottas disease, Neuropathy
RS1553259602 PIGC Health Risk Likely pathogenic Glycosylphosphatidylinositol biosynthesis defect 16, Glycosylphosphatidylinositol biosynthesis defect 16
RS1553259614 PIGC Health Risk Likely pathogenic Glycosylphosphatidylinositol biosynthesis defect 16, Glycosylphosphatidylinositol biosynthesis defect 16
RS1553259643 MPZ Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, type I
RS1553259647 MPZ Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 1B
RS1553259648 MPZ Health Risk Likely pathogenic Charcot-Marie-Tooth disease, type I
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