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
RS1315847764 FLNC Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 26, Cardiovascular phenotype
RS1315862965 COL4A3 Health Risk Pathogenic/Likely pathogenic COL4A3-related disorder, Alport syndrome 3b
RS1315864029 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS1315864916 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS1315877654 COL6A3 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1315898207 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1315905872 SLX4 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia
RS1315923578 GALNT12 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1315925055 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS1315958299 CEP41 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1315968443 NPHS1 Health Risk Pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1315983507 JAK3 Health Risk Pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS1316032472 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS1316039692 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS1316078638 FANCA Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS1316082064 ADAMTSL4 Health Risk Pathogenic —
RS1316112168 PREPL Health Risk Pathogenic/Likely pathogenic Myasthenic syndrome, congenital
RS1316114457 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1316130438 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS1316134526 ALPK3 Health Risk Pathogenic —
RS1316166172 TAT Health Risk Pathogenic/Likely pathogenic Tyrosinemia type II, Tyrosinemia type II
RS1316176181 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1316178162 HEXA Health Risk Conflicting classifications of pathogenicity Tay-Sachs disease, Tay-Sachs disease
RS1316220949 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1316227824 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1316228094 SLC25A26 Health Risk Likely pathogenic Combined oxidative phosphorylation deficiency 28, Combined oxidative phosphorylation deficiency 28
RS1316230541 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS1316240731 ABCA4 Health Risk Pathogenic —
RS1316281505 FAM161A Health Risk Pathogenic Retinitis pigmentosa, Inborn genetic diseases
RS1316287327 NDUFV1 Health Risk Likely pathogenic Leigh syndrome, Leigh syndrome
RS1316294712 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome
RS1316299165 USH1G Health Risk Pathogenic Usher syndrome type 1G, Usher syndrome type 1G
RS1316310273 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Luscan-Lumish syndrome
RS1316339721 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1316343192 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1316347883 CHST3 Health Risk Pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations
RS1316356500 SCP2 Health Risk Pathogenic —
RS1316363979 POLG2 Health Risk Pathogenic/Likely pathogenic —
RS1316380114 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype
RS1316385532 ATL1 Health Risk Pathogenic ATL1-related spastic paraplegia, recessive
RS1316386738 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS1316404038 PNPLA6 Health Risk Pathogenic Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS1316409501 MSH6 Health Risk Conflicting classifications of pathogenicity Endometrial carcinoma, Hereditary cancer-predisposing syndrome
RS1316424431 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1316434470 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS1316448163 SLC35A3 Health Risk Pathogenic Autism spectrum disorder - epilepsy - arthrogryposis syndrome, Autism spectrum disorder - epilepsy - arthrogryposis syndrome
RS1316472200 BBS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS1316473569 AFG2A Health Risk Pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS1316474105 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1316486592 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1316523481 TTN Health Risk Pathogenic —
RS1316527998 HBA1 Health Risk Likely pathogenic alpha Thalassemia, alpha Thalassemia
RS1316575607 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, NEB-related disorder
RS1316593215 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1316618431 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1316638883 IFNGR2 Health Risk Likely pathogenic Immunodeficiency 28, Immunodeficiency 28
RS1316648174 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1316655042 PXDN Health Risk Pathogenic Anterior segment dysgenesis 7, Anterior segment dysgenesis 7
RS1316675443 BMPER Health Risk Pathogenic —
RS1316686443 STXBP1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 4
RS1316690885 DIS3L2 Health Risk Pathogenic Perlman syndrome, Perlman syndrome
RS1316692489 MYH7 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1316696594 FOXI3 Health Risk Likely pathogenic Craniofacial microsomia 1, Craniofacial microsomia 1
RS1316703353 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS1316718953 PDE6B Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1316745675 RAB27A Health Risk Pathogenic Griscelli syndrome type 2, Griscelli syndrome type 2
RS1316749927 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS1316755014 POLE Health Risk Conflicting classifications of pathogenicity Facial dysmorphism-immunodeficiency-livedo-short stature syndrome, Hereditary cancer-predisposing syndrome
RS1316766241 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1316806485 F11 Health Risk Likely pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS1316844536 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS1316885634 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1316902116 SMAD4 Health Risk Likely pathogenic Juvenile polyposis syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1316926587 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1316928806 PCDH19 Health Risk Likely pathogenic —
RS1316931773 RTEL1 Health Risk Pathogenic/Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS1316934987 ABCA4 Health Risk Likely pathogenic —
RS1316946673 HEXA Health Risk Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS1316948611 VPS13C Health Risk Pathogenic —
RS1316950815 FANCA Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS1316952160 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS1316956248 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS1316958324 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS1316985932 POMK Health Risk Pathogenic/Likely pathogenic POMK-related disorder, Limb-girdle muscular dystrophy due to POMK deficiency
RS1316990533 DYM Health Risk Likely pathogenic —
RS1316999302 DNM1L Health Risk Likely pathogenic Mitochondrial disease, DNM1L-related disorder
RS1316999782 HNF1A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young
RS1317003529 PCCA Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS1317003987 DCLRE1C Health Risk Likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Histiocytic medullary reticulosis
RS1317009723 MFN2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1317010570 SCN1A Health Risk Likely pathogenic —
RS1317017233 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS1317036540 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS1317050260 XPC Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum, group C
RS1317051984 ALS2 Health Risk Pathogenic Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis
RS1317078806 CACNA2D2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, Cerebellar atrophy with seizures and variable developmental delay
RS1317080057 ACADS Health Risk Pathogenic/Likely pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS1317094682 LOXHD1 Health Risk Likely pathogenic —
RS1317098432 LPIN2 Health Risk Pathogenic Majeed syndrome, Majeed syndrome
RS1317100453 FANCB Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group B, VACTERL association
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