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
RS1483962098 PAK1 Health Risk Likely pathogenic Intellectual developmental disorder with macrocephaly, seizures
RS1483969601 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS148397660 CRB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Focal segmental glomerulosclerosis 9
RS148398142 TRIP11 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IA
RS148398677 TRNT1 Health Risk Conflicting classifications of pathogenicity Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Retinitis pigmentosa and erythrocytic microcytosis
RS148399096 PGK1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, PGK1-related disorder
RS148399313 RYR1 Health Risk Likely pathogenic RYR1-related disorder, Malignant hyperthermia
RS148399643 LZTR1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS148399669 SPART Health Risk Conflicting classifications of pathogenicity Troyer syndrome, Hereditary spastic paraplegia
RS148399850 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Inborn genetic diseases
RS148400889 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS148401327 KLHL7 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS148402228 ARID4B Health Risk Conflicting classifications of pathogenicity —
RS148402616 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS148402706 CYP4F22 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148402804 ZNF687 Health Risk Conflicting classifications of pathogenicity Paget disease of bone 6, Paget disease of bone 6
RS1484029774 WDR81 Health Risk Pathogenic/Likely pathogenic Hydrocephalus, congenital
RS1484032641 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS148403790 CFH Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome
RS148404005 MMAA Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria, cblA type
RS148404291 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1484043383 GBA1 Health Risk Conflicting classifications of pathogenicity Gaucher disease, Gaucher disease
RS148404807 FAN1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, FAN1-related disorder
RS148405563 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, Inborn genetic diseases
RS148405740 ANK2 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS148407192 FOCAD Health Risk Conflicting classifications of pathogenicity FOCAD-related disorder, Inborn genetic diseases
RS1484076591 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS148407750 LEP Health Risk Conflicting classifications of pathogenicity Obesity due to congenital leptin deficiency, LEP-related disorder
RS1484087361 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS148409389 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS1484101604 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases
RS148410166 SLC5A2 Health Risk Likely pathogenic Familial renal glucosuria, Familial renal glucosuria
RS1484104041 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, DNAH11-related disorder
RS148410442 GSN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Finnish type amyloidosis
RS148410446 EFEMP2 Health Risk Conflicting classifications of pathogenicity Cutis laxa, autosomal recessive
RS148410610 ALPK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148410675 FOXG1 Health Risk Likely pathogenic —
RS148410831 FCHO1 Health Risk Pathogenic —
RS1484111496 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1484114119 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1
RS148411623 ADSL Health Risk Conflicting classifications of pathogenicity Adenylosuccinate lyase deficiency, ADSL-related disorder
RS148412181 PPT1 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis
RS148412639 XDH Health Risk Conflicting classifications of pathogenicity Hereditary xanthinuria type 1, Xanthinuria type II
RS1484132200 TRMU Health Risk Likely pathogenic Aminoglycoside-induced deafness, Aminoglycoside-induced deafness
RS148413593 POLR2A Health Risk Likely pathogenic —
RS148414587 PTH1R Health Risk Conflicting classifications of pathogenicity Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia
RS1484147379 FUCA1 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS1484152128 BEST1 Health Risk Likely pathogenic —
RS148415946 FANCI Health Risk Pathogenic Fanconi anemia complementation group I, Fanconi anemia
RS148416501 PFKFB1 Health Risk Conflicting classifications of pathogenicity —
RS1484168822 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS148417330 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Intellectual disability
RS148417620 CLN8 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS148418233 EVC Health Risk Conflicting classifications of pathogenicity Curry-Hall syndrome, Ellis-van Creveld syndrome
RS148418252 DSG4 Health Risk Conflicting classifications of pathogenicity Hypotrichosis 6, Inborn genetic diseases
RS1484184249 MCFD2 Health Risk Likely pathogenic Factor V and factor VIII, combined deficiency of
RS148418568 AGPS Health Risk Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3
RS1484189435 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS148419444 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS148419748 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS148420552 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS148420672 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 1, MYH7-related skeletal myopathy
RS148421170 CDKN2B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, Multiple endocrine neoplasia
RS148421362 TSPEAR Health Risk Conflicting classifications of pathogenicity —
RS148422263 HESX1 Health Risk Conflicting classifications of pathogenicity Septo-optic dysplasia sequence, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES
RS148422524 MICAL1 Health Risk Conflicting classifications of pathogenicity —
RS148422896 FHOD3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, familial hypertrophic
RS148423275 SCP2 Health Risk Conflicting classifications of pathogenicity —
RS1484234707 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS148423929 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS148424051 MMAA Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria, cblA type
RS148424288 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Senior-Loken syndrome 4
RS148425035 DCHS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148425779 SDHAF2 Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS1484257921 ADGRV1 Health Risk Likely pathogenic —
RS1484259264 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Cerebellar atrophy
RS148425972 SLC26A4 Health Risk Conflicting classifications of pathogenicity Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS1484260838 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS148426762 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS148426950 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21
RS148427398 PEX1 Health Risk Conflicting classifications of pathogenicity Zellweger spectrum disorders, Zellweger spectrum disorders
RS148428054 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS148429663 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS148429884 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1484300349 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS148430549 CYP11A1 Health Risk Conflicting classifications of pathogenicity Congenital adrenal insufficiency with 46, XY sex reversal OR 46
RS148430780 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1484311033 SH2D1A Health Risk Conflicting classifications of pathogenicity X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency
RS148431487 TTC21A Health Risk Pathogenic Spermatogenic failure 37, Lymphoma
RS1484319243 SPTAN1 Health Risk Pathogenic —
RS1484321655 PEX1 Health Risk Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B
RS1484321812 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS148432863 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1484329571 MYO18B Health Risk Pathogenic —
RS148433261 OBSL1 Health Risk Conflicting classifications of pathogenicity 3M syndrome 2, 3M syndrome 2
RS148433683 MPDZ Health Risk Conflicting classifications of pathogenicity Hydrocephalus, nonsyndromic
RS148433720 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS1484339054 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS148433929 OAT Health Risk Conflicting classifications of pathogenicity Ornithine aminotransferase deficiency, Inborn genetic diseases
RS148433965 LAMA2 Health Risk Likely pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
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