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
RS865912479 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS865913887 ADCY10 Health Risk Pathogenic —
RS865920726 BBS12 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 12
RS865921466 MYPN Health Risk Likely pathogenic Dilated cardiomyopathy 1KK, Melanoma
RS865922330 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS865930770 TTN Health Risk Pathogenic/Likely pathogenic —
RS865931042 CHST3 Health Risk Likely pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations
RS865939646 PCLO Health Risk Pathogenic —
RS865947251 F5 Health Risk Conflicting classifications of pathogenicity Factor V deficiency, Thromboembolism
RS865951519 GAMT Health Risk Pathogenic Cerebral creatine deficiency syndrome, Deficiency of guanidinoacetate methyltransferase
RS865969846 CLCN7 Health Risk Pathogenic/Likely pathogenic —
RS865973286 SLC12A1 Health Risk Pathogenic/Likely pathogenic Bartter disease type 1, Bartter disease type 1
RS865974846 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS865977487 RPGR Health Risk Pathogenic Retinitis pigmentosa, RPGR-related retinopathy
RS865981027 C7 Health Risk Pathogenic —
RS865985076 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS865985297 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS865990202 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 19, Retinal dystrophy
RS865990681 CBS Health Risk Likely pathogenic Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS865994024 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS865996246 VSIG10L Health Risk Conflicting classifications of pathogenicity —
RS865999256 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS866001342 TYMP Health Risk Pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS866002450 SLC19A3 Health Risk Pathogenic Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS866005910 SHH Health Risk Likely pathogenic —
RS866005940 FANCE Health Risk Pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS866011766 NR2F1 Health Risk Pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome
RS866012140 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS866020952 NBAS Health Risk Pathogenic —
RS866021264 CTSC Health Risk Likely pathogenic Haim-Munk syndrome, Periodontitis
RS866033169 ASNS Health Risk Pathogenic/Likely pathogenic Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
RS866035312 ATP13A2 Health Risk Pathogenic Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS866037100 CACNA1E Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 69
RS866037881 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS866044092 PSEN2 Health Risk Conflicting classifications of pathogenicity Huntington disease-like syndrome, Alzheimer disease 4
RS866046915 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, Medulloblastoma
RS866050664 ASCC1 Health Risk Pathogenic Spinal muscular atrophy with congenital bone fractures 2, Centronuclear myopathy
RS866054011 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS866055625 SCN5A Health Risk Likely pathogenic Brugada syndrome, Brugada syndrome
RS866055657 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Familial cold autoinflammatory syndrome 2
RS866061439 COL7A1 Health Risk Pathogenic Generalized dominant dystrophic epidermolysis bullosa, Generalized dominant dystrophic epidermolysis bullosa
RS866067386 RPGRIP1L Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS866069044 GTPBP3 Health Risk Pathogenic —
RS866069095 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS866069972 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS866072933 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS866075757 GBA1 Health Risk Pathogenic/Likely pathogenic Gaucher disease, 7 conditions
RS866087553 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS866096259 CFAP44 Health Risk Pathogenic Spermatogenic failure 20, CFAP44-related disorder
RS866097920 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS866101707 VCP Health Risk Likely pathogenic Alzheimer disease, Alzheimer disease
RS866101912 FAN1 Health Risk Conflicting classifications of pathogenicity Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis
RS866104898 MRE11 Health Risk Likely pathogenic Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1
RS866122374 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS866130958 C2 Health Risk Pathogenic —
RS866130991 LCA5 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS866138115 HBG2 Health Risk Pathogenic Hereditary persistence of fetal hemoglobin, Hereditary persistence of fetal hemoglobin
RS866140272 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS866144313 PEX1 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders
RS866146696 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS866151033 ITGA6 Health Risk Pathogenic —
RS866158774 MIPEP Health Risk Pathogenic/Likely pathogenic Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome, Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
RS866163858 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS866179648 DDX41 Health Risk Pathogenic Acute myeloid leukemia, DDX41-related hematologic malignancy predisposition syndrome
RS866182415 GCK Health Risk Likely pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young type 2
RS866183824 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS866184460 PEX1 Health Risk Pathogenic/Likely pathogenic Zellweger spectrum disorders, Peroxisome biogenesis disorder 1A (Zellweger)
RS866186589 MUSK Health Risk Pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9
RS866191653 ATM Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS866199775 CDH23 Health Risk Pathogenic —
RS866218814 ETFA Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS866225395 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS866226288 EVC Health Risk Conflicting classifications of pathogenicity Curry-Hall syndrome, Ellis-van Creveld syndrome
RS866229566 TGM1 Health Risk Pathogenic —
RS866231149 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS866231304 HPS3 Health Risk Pathogenic —
RS866237249 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS866240607 SPTA1 Health Risk Pathogenic —
RS866242352 DYNC1H1 Health Risk Likely pathogenic —
RS866242631 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS866257451 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS866260025 PFKM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type VII
RS866260675 MSH3 Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 4, Hereditary cancer-predisposing syndrome
RS866262581 SETD1B Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with seizures and language delay, Inborn genetic diseases
RS866266558 SLC25A38 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS866273473 SMC3 Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3
RS866273848 KCNQ2 Health Risk Pathogenic Seizures, benign familial neonatal
RS866277517 MNX1 Health Risk Conflicting classifications of pathogenicity Currarino triad, Currarino triad
RS866282352 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS866283042 CACNA2D1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Developmental and epileptic encephalopathy 110
RS866288154 LARP7 Health Risk Pathogenic LARP7-related disorder, LARP7-related disorder
RS866290641 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS866290802 CDH3 Health Risk Pathogenic Hypotrichosis, Hypotrichosis
RS866294686 TRIM8 Health Risk Pathogenic/Likely pathogenic TRIM8-related epileptic encephalopathy, Focal segmental glomerulosclerosis and neurodevelopmental syndrome
RS866298268 PUS1 Health Risk Pathogenic —
RS866300270 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS866302515 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS866309952 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS866311790 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS866313799 AMER1 Health Risk Conflicting classifications of pathogenicity Osteopathia striata with cranial sclerosis, Osteopathia striata with cranial sclerosis
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