SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS1057524572 GALT Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS1057524573 SCN2A Health Risk Likely pathogenic Benign familial neonatal-infantile seizures 1, Developmental and epileptic encephalopathy
RS1057524581 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS1057524584 HNRNPU Health Risk Pathogenic Developmental and epileptic encephalopathy, 1
RS1057524588 EFTUD2 Health Risk Pathogenic —
RS1057524593 PORCN Health Risk Pathogenic —
RS1057524595 KCNH2 Health Risk Likely pathogenic —
RS1057524599 KCNQ2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1057524602 COL2A1 Health Risk Pathogenic —
RS1057524605 SLC52A3 Health Risk Conflicting classifications of pathogenicity —
RS1057524608 PHEX Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1057524616 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1057524625 TMEM43 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS1057524634 EARS2 Health Risk Likely pathogenic —
RS1057524637 PURA Health Risk Pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS1057524638 WDR81 Health Risk Pathogenic —
RS1057524643 COL11A2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 53, Otospondylomegaepiphyseal dysplasia
RS1057524645 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1057524647 VEGFC Health Risk Pathogenic Squamous cell carcinoma of the head and neck, Squamous cell carcinoma of the head and neck
RS1057524648 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1057524653 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1057524663 CDKL5 Health Risk Pathogenic —
RS1057524670 KCNC1 Health Risk Likely pathogenic Inborn genetic diseases, Progressive myoclonic epilepsy type 7
RS1057524676 FGF8 Health Risk Likely pathogenic —
RS1057524677 CHD8 Health Risk Pathogenic/Likely pathogenic CHD8-related disorder, CHD8-related disorder
RS1057524680 SMARCAL1 Health Risk Likely pathogenic —
RS1057524681 SMARCAL1 Health Risk Likely pathogenic —
RS1057524688 KCNB1 Health Risk Likely pathogenic —
RS1057524689 KMT2D Health Risk Likely pathogenic —
RS1057524690 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS1057524693 UBE2A Health Risk Pathogenic —
RS1057524695 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1057524696 COL2A1 Health Risk Pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS1057524697 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1057524700 PPM1D Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1057524702 GBA1 Health Risk Likely pathogenic —
RS1057524703 ACTG1 Health Risk Likely pathogenic —
RS1057524707 GDF1 Health Risk Likely pathogenic —
RS1057524708 CSNK2A1 Health Risk Pathogenic —
RS1057524714 TALDO1 Health Risk Likely pathogenic —
RS1057524715 IVD Health Risk Likely pathogenic —
RS1057524718 TUBB Health Risk Likely pathogenic —
RS1057524722 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1057524724 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1057524727 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, Hypophosphatasia
RS1057524732 FOXP1 Health Risk Pathogenic —
RS1057524735 FBN1 Health Risk Likely pathogenic —
RS1057524736 KIF11 Health Risk Pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS1057524737 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1057524751 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1057524752 SCN1A Health Risk Likely pathogenic —
RS1057524755 LOXHD1 Health Risk Pathogenic/Likely pathogenic —
RS1057524757 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS1057524761 SPTBN2 Health Risk Likely pathogenic —
RS1057524765 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS1057524775 CAMTA1 Health Risk Likely pathogenic —
RS1057524777 NLRP3 Health Risk Likely pathogenic —
RS1057524787 AXIN2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1057524790 HNF4A Health Risk Likely pathogenic Maturity-onset diabetes of the young, Monogenic diabetes
RS1057524791 IL12RB1 Health Risk Likely pathogenic —
RS1057524792 LIAS Health Risk Conflicting classifications of pathogenicity Lipoic acid synthetase deficiency, Inborn genetic diseases
RS1057524795 STXBP1 Health Risk Conflicting classifications of pathogenicity Infantile epilepsy syndrome, Developmental and epileptic encephalopathy
RS1057524798 SMC1A Health Risk Likely pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS1057524799 GJB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X
RS1057524802 CREBBP Health Risk Conflicting classifications of pathogenicity Menke-Hennekam syndrome 1, Inborn genetic diseases
RS1057524804 CACNA1C Health Risk Conflicting classifications of pathogenicity Timothy syndrome, Long QT syndrome
RS1057524809 SMAD4 Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS1057524810 TGFBR2 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1057524820 SCN8A Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 13
RS1057524821 TCF4 Health Risk Likely pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS1057524822 TRMU Health Risk Likely pathogenic —
RS1057524825 DMD Health Risk Pathogenic Thyroid cancer, nonmedullary
RS1057524829 FOLR1 Health Risk Likely pathogenic —
RS1057524831 ASXL3 Health Risk Pathogenic —
RS1057524832 MBD5 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 1
RS1057524834 STXBP1 Health Risk Likely pathogenic —
RS1057524835 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS1057524838 TTN Health Risk Pathogenic —
RS1057524842 AHI1 Health Risk Likely pathogenic —
RS1057524843 AHI1 Health Risk Pathogenic —
RS1057524847 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS1057524848 EMD Health Risk Pathogenic X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
RS1057524850 STAG1 Health Risk Likely pathogenic STAG1-related disorder, STAG1-related disorder
RS1057524857 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS1057524858 RYR1 Health Risk Likely pathogenic RYR1-related disorder, Central core myopathy
RS1057524860 KCNQ2 Health Risk Likely pathogenic —
RS1057524862 PC Health Risk Likely pathogenic —
RS1057524864 DGUOK Health Risk Pathogenic —
RS1057524865 NDUFA11 Health Risk Likely pathogenic —
RS1057524868 GLB1 Health Risk Likely pathogenic —
RS1057524869 NKX2-1 Health Risk Likely pathogenic Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome
RS1057524873 COL1A2 Health Risk Pathogenic COL1A2-related disorder, COL1A2-related disorder
RS1057524874 PTEN Health Risk Pathogenic Macrocephaly-autism syndrome, Cowden syndrome 1
RS1057524876 NLRP1 Health Risk Pathogenic/Likely pathogenic Autoinflammation with arthritis and dyskeratosis, Autoinflammation with arthritis and dyskeratosis
RS1057524878 SYNJ1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 53
RS1057524879 SYNJ1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 53
RS1057524880 SYNJ1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 53
RS1057524883 ALMS1 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Cardiovascular phenotype
RS1057524885 ALMS1 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Cardiovascular phenotype
RS1057524887 WFS1 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Wolfram syndrome 1
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