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
RS1057519544 KCNT1 Health Risk Likely pathogenic Malignant migrating partial seizures of infancy, Malignant migrating partial seizures of infancy
RS1057519545 SYNGAP1 Health Risk Likely pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS1057519546 SYNGAP1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 5
RS1057519547 HCN1 Health Risk Pathogenic Epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1057519548 HCN1 Health Risk Likely pathogenic Epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1057519549 GABRB3 Health Risk Likely pathogenic Epileptic encephalopathy, Epilepsy
RS1057519550 GABRB3 Health Risk Pathogenic/Likely pathogenic Epileptic encephalopathy, Epilepsy
RS1057519552 GRIN2A Health Risk Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1057519558 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1057519559 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1057519560 MYT1L Health Risk Likely pathogenic Intellectual disability, autosomal dominant 39
RS1057519561 SNX14 Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 20, Autosomal recessive spinocerebellar ataxia 20
RS1057519563 DENND5A Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 49
RS1057519564 DENND5A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 49
RS1057519565 DEAF1 Health Risk Pathogenic Intellectual disability, autosomal dominant 24
RS1057519566 MDH2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 51
RS1057519567 MDH2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 51
RS1057519568 DNAAF6 Health Risk Pathogenic Ciliary dyskinesia, primary
RS1057519569 DNAAF6 Health Risk Pathogenic Ciliary dyskinesia, primary
RS1057519570 MYPN Health Risk Pathogenic MYPN-related myopathy, MYPN-related myopathy
RS1057519571 MYPN Health Risk Pathogenic MYPN-related myopathy, MYPN-related myopathy
RS1057519573 MYPN Health Risk Pathogenic MYPN-related myopathy, Dilated cardiomyopathy 1KK
RS1057519574 LRP5 Health Risk Likely pathogenic Osteoporosis with pseudoglioma, Osteoporosis with pseudoglioma
RS1057519575 LRP5 Health Risk Likely pathogenic Osteoporosis with pseudoglioma, Osteoporosis with pseudoglioma
RS1057519576 C1R Health Risk Pathogenic Ehlers-Danlos syndrome, periodontal type 1
RS1057519577 C1R Health Risk Pathogenic Ehlers-Danlos syndrome, periodontal type 1
RS1057519578 C1R Health Risk Pathogenic Ehlers-Danlos syndrome, periodontal type 1
RS1057519579 C1R Health Risk Pathogenic Ehlers-Danlos syndrome, periodontal type 1
RS1057519580 C1R Health Risk Pathogenic Ehlers-Danlos syndrome, periodontal type 1
RS1057519583 STN1 Health Risk Pathogenic Cerebroretinal microangiopathy with calcifications and cysts 2, Cerebroretinal microangiopathy with calcifications and cysts 2
RS1057519584 KCNQ1 Health Risk Pathogenic Short QT syndrome type 2, Short QT syndrome type 2
RS1057519585 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1057519587 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1057519588 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1057519591 CTSD Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis
RS1057519592 TCF4 Health Risk Likely pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS1057519593 KIRREL3 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 4
RS1057519594 SETBP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 29
RS1057519595 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome
RS1057519596 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1057519597 YY1AP1 Health Risk Pathogenic Grange syndrome, Grange syndrome
RS1057519598 YY1AP1 Health Risk Pathogenic Grange syndrome, Grange syndrome
RS1057519599 YY1AP1 Health Risk Pathogenic/Likely pathogenic Grange syndrome, YY1AP1-related disorder
RS1057519600 UCHL1 Health Risk Pathogenic Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
RS1057519601 MYO15A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS1057519602 SGO2 Health Risk Pathogenic Premature ovarian failure, Premature ovarian failure
RS1057519603 MYO15A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS1057519604 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS1057519605 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Hearing loss
RS1057519606 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS1057519607 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS1057519608 SLC12A1 Health Risk Pathogenic Bartter disease type 1, Bartter disease type 1
RS1057519609 GLA Health Risk Likely pathogenic Fabry disease, Fabry disease
RS1057519610 SERPINA1 Health Risk Pathogenic; other PI NULL(HONG KONG 1), PI Q0(HONG KONG 1)
RS1057519611 GRIN2B Health Risk Pathogenic Intellectual disability, autosomal dominant 6
RS1057519612 GRIN2B Health Risk Pathogenic Intellectual disability, autosomal dominant 6
RS1057519613 SMARCAD1 Health Risk Pathogenic Adermatoglyphia, Basan syndrome
RS1057519614 SMCHD1 Health Risk Pathogenic Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS1057519616 MIP Health Risk Pathogenic Cataract 15 multiple types, Cataract 15 multiple types
RS1057519617 SCN2A Health Risk Pathogenic Intellectual disability, autosomal dominant
RS1057519622 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS1057519624 RPS7 Health Risk Pathogenic Diamond-Blackfan anemia 8, Diamond-Blackfan anemia 8
RS1057519626 PIEZO2 Health Risk Pathogenic Arthrogryposis, distal
RS1057519627 SRY Health Risk Likely pathogenic 46, XY sex reversal 1
RS1057519628 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS1057519629 TBC1D24 Health Risk Conflicting classifications of pathogenicity Parkinsonian disorder, Developmental and epileptic encephalopathy
RS1057519630 TBC1D24 Health Risk Conflicting classifications of pathogenicity Parkinsonian disorder, Autosomal dominant epilepsy
RS1057519631 PTRHD1 Health Risk Pathogenic Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities, Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities
RS1057519632 CDK13 Health Risk Pathogenic Congenital heart defects, dysmorphic facial features
RS1057519633 CDK13 Health Risk Likely pathogenic Congenital heart defects, dysmorphic facial features
RS1057519634 CDK13 Health Risk Pathogenic/Likely pathogenic Congenital heart defects, dysmorphic facial features
RS1057519635 PRKD1 Health Risk Pathogenic Congenital heart defects and ectodermal dysplasia, Congenital heart defects and ectodermal dysplasia
RS1057519636 PRKD1 Health Risk Pathogenic Congenital heart defects and ectodermal dysplasia, Congenital heart defects and ectodermal dysplasia
RS1057519637 HBA2 Health Risk Pathogenic alpha Thalassemia, alpha Thalassemia
RS1057519638 DMRT1 Health Risk Likely pathogenic 46, XY sex reversal 4
RS1057519640 SMCHD1 Health Risk Pathogenic Arrhinia with choanal atresia and microphthalmia syndrome, Arrhinia with choanal atresia and microphthalmia syndrome
RS1057519641 SMCHD1 Health Risk Pathogenic Arrhinia with choanal atresia and microphthalmia syndrome, Arrhinia with choanal atresia and microphthalmia syndrome
RS1057519642 SMCHD1 Health Risk Pathogenic Arrhinia with choanal atresia and microphthalmia syndrome, Short nose
RS1057519643 SMCHD1 Health Risk Conflicting classifications of pathogenicity Arrhinia with choanal atresia and microphthalmia syndrome, Facioscapulohumeral muscular dystrophy 2
RS1057519644 SMCHD1 Health Risk Pathogenic Arrhinia with choanal atresia and microphthalmia syndrome, Facioscapulohumeral muscular dystrophy 2
RS1057519645 SMCHD1 Health Risk Pathogenic Arrhinia with choanal atresia and microphthalmia syndrome, Arrhinia with choanal atresia and microphthalmia syndrome
RS1057519646 SMCHD1 Health Risk Likely pathogenic Arrhinia with choanal atresia and microphthalmia syndrome, SMCHD1-related disorder
RS1057519647 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS1057519648 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS1057519649 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS1057519650 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS1057519652 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS1057519653 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1057519654 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1057519655 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS1057519657 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS1057519658 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS1057519659 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS1057519660 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1057519661 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1057519662 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1057519663 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1057519664 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS1057519665 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1057519666 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
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