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
RS777636094 CAPN3 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS777636561 IL17RC Health Risk Conflicting classifications of pathogenicity Candidiasis, familial
RS777637262 PLCB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS777638253 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS777638364 CYP17A1 Health Risk Pathogenic Congenital adrenal hyperplasia, Deficiency of steroid 17-alpha-monooxygenase
RS777639198 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS777640882 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS777641484 SLC26A4 Health Risk Pathogenic/Likely pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS777641881 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS777642089 SCN10A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome
RS777642457 RP1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS777642846 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS777643880 ADGRG1 Health Risk Likely pathogenic Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
RS777645484 CTSD Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS777645491 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS777646067 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS777646291 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS777647151 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2C, Congenital myopathy
RS777647740 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS777647845 AEBP1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, classic-like
RS777648103 HCN4 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 8, Cardiovascular phenotype
RS777648532 LDLRAP1 Health Risk Pathogenic —
RS777649526 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS777650346 HTRA2 Health Risk Conflicting classifications of pathogenicity Parkinson disease 13, autosomal dominant
RS777652245 CHD7 Health Risk Pathogenic CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS777652834 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS777653277 TMPRSS15 Health Risk Pathogenic —
RS777653524 SETBP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 29
RS777654308 NPC2 Health Risk Likely pathogenic Niemann-Pick disease, type C2
RS777654833 TONSL Health Risk Conflicting classifications of pathogenicity Sponastrime dysplasia, Spondylometaphyseal dysplasia
RS777654978 MOGS Health Risk Pathogenic/Likely pathogenic MOGS-congenital disorder of glycosylation, MOGS-congenital disorder of glycosylation
RS777655944 CEACAM16 Health Risk Conflicting classifications of pathogenicity Hearing loss, autosomal recessive 113
RS777656140 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS777656311 BSND Health Risk Conflicting classifications of pathogenicity —
RS777656764 SPTA1 Health Risk Pathogenic/Likely pathogenic —
RS777657769 HEXB Health Risk Likely pathogenic Sandhoff disease, Sandhoff disease
RS777658285 PNPLA1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 10, Autosomal recessive congenital ichthyosis 10
RS777659233 SELENON Health Risk Pathogenic/Likely pathogenic Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS777659902 COX15 Health Risk Pathogenic/Likely pathogenic Thyroid cancer, nonmedullary
RS777661211 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777661576 MTHFR Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects
RS777661862 LTBP2 Health Risk Pathogenic Microspherophakia, Microspherophakia
RS777662073 PRF1 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Inborn genetic diseases
RS777663097 WFS1 Health Risk Pathogenic/Likely pathogenic Wolfram syndrome 1, Wolfram syndrome 1
RS777663267 HNRNPU Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 54
RS777664260 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS777664567 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Hearing impairment
RS777664906 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS777665186 VARS1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with microcephaly, seizures
RS777665839 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS777667891 USB1 Health Risk Pathogenic Poikiloderma with neutropenia, Poikiloderma with neutropenia
RS777668842 AHI1 Health Risk Pathogenic Joubert syndrome 3, Joubert syndrome
RS777669076 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS777670056 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS777670507 NAGLU Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-B
RS777670525 NEB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Nemaline myopathy 2
RS777670871 MAP2K2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome and Noonan-related syndrome, Cardiovascular phenotype
RS777671269 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS777671647 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS777672897 LAMB3 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS777673463 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS777673930 PROM1 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS777676129 CYP24A1 Health Risk Pathogenic Hypercalcemia, infantile
RS777676427 IFT172 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly
RS777677253 TTN Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G
RS777677768 NPHP1 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Senior-Loken syndrome 1
RS777677997 MPDZ Health Risk Pathogenic —
RS777678022 FAM161A Health Risk Pathogenic Retinitis pigmentosa, Autosomal recessive retinitis pigmentosa
RS777678214 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS777679246 CHAT Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome, Familial infantile myasthenia
RS777679907 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS777681757 DDC Health Risk Pathogenic/Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS777682875 SLC7A7 Health Risk Conflicting classifications of pathogenicity Lysinuric protein intolerance, Lysinuric protein intolerance
RS777683624 HOGA1 Health Risk Pathogenic/Likely pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS777684045 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS777684224 CACNA1E Health Risk Conflicting classifications of pathogenicity —
RS777684328 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS777684375 CHAT Health Risk Pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS777685040 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS777685355 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS777685454 CLCN1 Health Risk Likely pathogenic Congenital myotonia, autosomal dominant form
RS777685741 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777685963 EIF2B5 Health Risk Conflicting classifications of pathogenicity Vanishing white matter disease, Vanishing white matter disease
RS777686211 CPLANE1 Health Risk Pathogenic/Likely pathogenic Orofaciodigital syndrome type 6, Joubert syndrome 17
RS777686455 ALG8 Health Risk Pathogenic/Likely pathogenic ALG8 congenital disorder of glycosylation, Polycystic liver disease 3 with or without kidney cysts
RS777686665 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS777687210 COL4A4 Health Risk Likely pathogenic —
RS777687956 EPAS1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS777688795 GHR Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS777688853 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777689378 SCN5A Health Risk Likely pathogenic Brugada syndrome, Brugada syndrome
RS777691017 RUSC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 61
RS777691939 CPS1 Health Risk Pathogenic/Likely pathogenic Pulmonary hypertension, neonatal
RS777692271 NDUFV1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 4
RS777693832 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS777694025 SLC34A1 Health Risk Conflicting classifications of pathogenicity Hypercalcemia, infantile
RS777694778 MED13L Health Risk Conflicting classifications of pathogenicity Dextro-looped transposition of the great arteries, Dextro-looped transposition of the great arteries
RS777695770 GPSM2 Health Risk Pathogenic/Likely pathogenic Chudley-McCullough syndrome, Chudley-McCullough syndrome
RS777696417 LMOD1 Health Risk Pathogenic Visceral myopathy 1, Megacystis-microcolon-intestinal hypoperistalsis syndrome 3
RS777696608 MPDU1 Health Risk Likely pathogenic —
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