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
RS1588324615 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis syndrome
RS1588326345 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Tuberous sclerosis 1
RS1588326629 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1588326742 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1588332693 STXBP1 Health Risk Pathogenic —
RS1588339504 STXBP1 Health Risk Likely pathogenic Cerebellar ataxia, Intellectual disability
RS1588339898 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS1588341629 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS1588343792 KMT2C Health Risk Pathogenic Kleefstra syndrome due to a point mutation, KMT2C-related NDD
RS1588344733 KCNT1 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 14
RS1588345595 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1588345678 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1588346359 STXBP1 Health Risk Pathogenic —
RS1588347154 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS1588350264 FANCC Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia
RS1588350477 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1588352395 DNM1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 31A
RS1588353394 FANCC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia
RS1588353886 FANCC Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group C
RS1588354762 ANK2 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1588354779 STXBP1 Health Risk Pathogenic —
RS1588355023 STXBP1 Health Risk Pathogenic —
RS1588355427 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS1588355566 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1588355628 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1588355838 TSC1 Health Risk Pathogenic/Likely pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1588355863 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Tuberous sclerosis syndrome
RS1588359592 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1588359822 TSC1 Health Risk Pathogenic —
RS1588359968 KCNT1 Health Risk Likely pathogenic —
RS1588368432 DNM1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 31B
RS1588374920 GATA3 Health Risk Pathogenic Hypoparathyroidism, deafness
RS1588375386 POMT1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS1588377489 POMT1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS1588377948 GATA3 Health Risk Pathogenic/Likely pathogenic Hypoparathyroidism, deafness
RS1588378126 GATA3 Health Risk Pathogenic Hypoparathyroidism, deafness
RS1588383622 GATA3 Health Risk Conflicting classifications of pathogenicity Dominant congenital non-syndromic sensorineural hearing loss, Dominant congenital non-syndromic sensorineural hearing loss
RS1588385233 KCNT1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 14
RS1588391546 GATA3 Health Risk Likely pathogenic —
RS1588391612 POMT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
RS1588391640 ADAM9 Health Risk Pathogenic Cone-rod dystrophy, Cone-rod dystrophy
RS1588397346 TRAPPC9 Health Risk Pathogenic —
RS1588407944 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS1588409344 POMT1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS1588410519 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1588412390 HNRNPK Health Risk Likely pathogenic Au-Kline syndrome, Au-Kline syndrome
RS1588417800 HNRNPK Health Risk Pathogenic/Likely pathogenic Au-Kline syndrome, Au-Kline syndrome
RS1588420907 ANKS6 Health Risk Pathogenic Nephronophthisis 16, Nephronophthisis 16
RS1588425694 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1588432187 HNRNPK Health Risk Likely pathogenic Au-Kline syndrome, Au-Kline syndrome
RS1588434457 HNRNPK Health Risk Likely pathogenic Au-Kline syndrome, Au-Kline syndrome
RS1588448655 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1588449569 OPTN Health Risk Pathogenic/Likely pathogenic Primary open angle glaucoma, Glaucoma 1
RS1588449811 DNM1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A
RS1588449879 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1588472215 CDK5RAP2 Health Risk Pathogenic Microcephaly 3, primary
RS1588475891 ASS1 Health Risk Likely pathogenic Citrullinemia type I, Citrullinemia type I
RS1588477255 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1588481921 EHMT1 Health Risk Likely pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS1588487990 ANK2 Health Risk Likely pathogenic —
RS1588491546 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1588491595 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1588495489 ASS1 Health Risk Likely pathogenic Citrullinemia type I, Ovarian serous cystadenocarcinoma
RS1588496214 ASS1 Health Risk Pathogenic/Likely pathogenic Citrullinemia type I, Citrullinemia
RS1588508532 ASS1 Health Risk Likely pathogenic Citrullinemia type I, Citrullinemia type I
RS1588510932 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1588511352 ABCA2 Health Risk Pathogenic Ataxia with Dysarthria, Ataxia with Dysarthria
RS1588511533 CUBN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Proteinuria
RS1588512383 ABCA2 Health Risk Pathogenic Intellectual developmental disorder with poor growth and with or without seizures or ataxia, Intellectual developmental disorder with poor growth and with or without seizures or ataxia
RS1588519463 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1588524458 ABCA2 Health Risk Pathogenic Intellectual developmental disorder with poor growth and with or without seizures or ataxia, Intellectual developmental disorder with poor growth and with or without seizures or ataxia
RS1588525874 ABCA2 Health Risk Pathogenic Intellectual developmental disorder with poor growth and with or without seizures or ataxia, Intellectual developmental disorder with poor growth and with or without seizures or ataxia
RS1588528503 PTCH1 Health Risk Pathogenic/Likely pathogenic Gorlin syndrome, Gorlin syndrome
RS1588528637 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS1588533423 EHMT1 Health Risk Pathogenic —
RS1588533561 EHMT1 Health Risk Pathogenic —
RS1588533578 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, EHMT1-related disorder
RS1588535416 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1588535427 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1588535437 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1588535471 PTCH1 Health Risk Likely pathogenic —
RS1588535542 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1588535611 PTCH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1588539525 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1588539623 PTCH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS1588540806 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1588550383 COL27A1 Health Risk Pathogenic Steel syndrome, Steel syndrome
RS1588551159 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1588551226 COL5A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS1588553447 EHMT1 Health Risk Pathogenic/Likely pathogenic Marfanoid habitus and intellectual disability, Inborn genetic diseases
RS1588559786 SLC27A4 Health Risk Likely pathogenic Ichthyosis prematurity syndrome, Ichthyosis prematurity syndrome
RS1588560194 SLC27A4 Health Risk Likely pathogenic —
RS1588562135 COL5A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, classic type
RS1588563037 PTF1A Health Risk Pathogenic/Likely pathogenic Pancreatic agenesis 2, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
RS1588568477 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1588568595 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1588568813 PTCH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS1588571802 KMT2C Health Risk Pathogenic Kleefstra syndrome 2, Kleefstra syndrome 2
RS1588572388 ENG Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS1588573059 KMT2C Health Risk Pathogenic Kleefstra syndrome 2, Kleefstra syndrome 2
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