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
RS770068342 LOXHD1 Health Risk Pathogenic —
RS770069345 KCNB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 26
RS770072323 TAP1 Health Risk Pathogenic MHC class I deficiency, MHC class I deficiency
RS770073633 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS770073741 TMTC4 Health Risk Pathogenic Hearing loss, autosomal recessive 122
RS770074196 LIPA Health Risk Pathogenic Lysosomal acid lipase deficiency, Wolman disease
RS770077517 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS770077556 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS770077760 PLOD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770078634 HNF1B Health Risk Uncertain significance/Uncertain risk allele Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS770078722 ALDH3A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770080914 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS770081373 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal dominant form
RS770082088 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Usher syndrome type 1F
RS770082593 ZBTB24 Health Risk Pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2
RS770082667 IARS2 Health Risk Conflicting classifications of pathogenicity —
RS770082735 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS770083296 DUOX2 Health Risk Pathogenic/Likely pathogenic Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS770084126 PIGL Health Risk Pathogenic CHIME syndrome, Syndromic intellectual disability
RS77008420 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, DNAH11-related disorder
RS770084292 TTN Health Risk Conflicting classifications of pathogenicity —
RS770084300 MMACHC Health Risk Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS770084568 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS770084716 SDCCAG8 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 16, Senior-Loken syndrome 7
RS770086296 HMBS Health Risk Pathogenic/Likely pathogenic Acute intermittent porphyria, Acute intermittent porphyria
RS770087254 GALK1 Health Risk Pathogenic/Likely pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS770087890 IDUA Health Risk Likely pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS770088527 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS770089307 ACTB Health Risk Conflicting classifications of pathogenicity Baraitser-Winter syndrome 1, Cervical cancer
RS770089512 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, ABCA4-related disorder
RS770089807 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS770090143 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS770091394 UPB1 Health Risk Conflicting classifications of pathogenicity Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase
RS770092845 MYO6 Health Risk Pathogenic —
RS770093080 HEXA Health Risk Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS770093969 ALPL Health Risk Pathogenic/Likely pathogenic Adult hypophosphatasia, Hypophosphatasia
RS770095188 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Inborn genetic diseases
RS770095972 CBS Health Risk Pathogenic/Likely pathogenic Classic homocystinuria, Homocystinuria
RS770096659 CNGB3 Health Risk Likely pathogenic Achromatopsia 3, Achromatopsia 3
RS770096661 ALS2 Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 2, juvenile
RS770097894 FRMD7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770098673 SMAD3 Health Risk Likely pathogenic Loeys-Dietz syndrome, Loeys-Dietz syndrome
RS770099347 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS770099403 SCLT1 Health Risk Likely pathogenic Uterine corpus endometrial carcinoma, Uterine corpus endometrial carcinoma
RS770099418 SKIC2 Health Risk Pathogenic Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
RS770099663 COL6A1 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS770100636 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS770102135 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS770102182 ASPH Health Risk Likely pathogenic —
RS77010315 SLC36A2 Health Risk Conflicting classifications of pathogenicity Hyperglycinuria, Iminoglycinuria
RS770103215 ABCG5 Health Risk Conflicting classifications of pathogenicity Sitosterolemia 1, Cardiovascular phenotype
RS770104934 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS770105310 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8
RS770105416 SOX10 Health Risk Conflicting classifications of pathogenicity Waardenburg syndrome type 4C, Waardenburg syndrome type 4C
RS770106200 KANK1 Health Risk Conflicting classifications of pathogenicity —
RS770106849 SELENON Health Risk Pathogenic Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS770107050 TBC1D24 Health Risk Pathogenic 6 conditions, Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
RS770107349 ANK3 Health Risk Conflicting classifications of pathogenicity Intellectual disability-hypotonia-spasticity-sleep disorder syndrome, Inborn genetic diseases
RS770108122 HPS3 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS770108485 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS77010898 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
RS770109772 XDH Health Risk Conflicting classifications of pathogenicity Hereditary xanthinuria type 1, Xanthinuria type II
RS770109867 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brittle cornea syndrome 1
RS770110491 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS770111331 SCN1A Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS770111639 IGHMBP2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1
RS770111708 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 25
RS770114459 HIBCH Health Risk Pathogenic 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency
RS770115219 POLG Health Risk Pathogenic —
RS770116143 GJB2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 3A
RS770116247 GJB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease
RS770116680 P4HTM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770117004 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS770118451 GLE1 Health Risk Likely pathogenic —
RS770120153 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS770121912 ATP13A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Kufor-Rakeb syndrome
RS770122195 XIAP Health Risk Conflicting classifications of pathogenicity X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency
RS770122563 LARP7 Health Risk Pathogenic —
RS770123186 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS770126103 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS770126315 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS770127110 ACAD9 Health Risk Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS770127999 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS770128715 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS770128720 LIG4 Health Risk Pathogenic DNA ligase IV deficiency, DNA ligase IV deficiency
RS770129304 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS770130369 DYM Health Risk Pathogenic —
RS770130604 CCDC78 Health Risk Conflicting classifications of pathogenicity Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases
RS770130993 CFAP410 Health Risk Likely pathogenic Retinal dystrophy with or without macular staphyloma, Retinal dystrophy with or without macular staphyloma
RS770131276 SCO1 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex IV deficiency, nuclear type 4
RS770132934 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS770133920 GSR Health Risk Conflicting classifications of pathogenicity Hemolytic anemia due to glutathione reductase deficiency, Hemolytic anemia due to glutathione reductase deficiency
RS770136467 DNAAF4 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS770136705 STRA6 Health Risk Likely pathogenic Malignant tumor of esophagus, Malignant tumor of esophagus
RS770136863 CLN3 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3
RS770137069 TBCD Health Risk Pathogenic —
RS770137350 SPTA1 Health Risk Pathogenic —
RS770138214 WDR62 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770138627 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS770140490 ABCA3 Health Risk Pathogenic —
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