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
RS145751759 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1457520634 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS1457522002 SLC39A4 Health Risk Pathogenic —
RS145752649 RASA1 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation 1, Capillary malformation-arteriovenous malformation syndrome
RS145753633 SPTB Health Risk Conflicting classifications of pathogenicity —
RS145754381 ABCG8 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ABCG8-related disorder
RS145754397 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KAT6A-related disorder
RS145754412 SARS2 Health Risk Conflicting classifications of pathogenicity Hyperuricemia, pulmonary hypertension
RS145754440 ARHGEF10 Health Risk Conflicting classifications of pathogenicity ARHGEF10-related disorder, ARHGEF10-related disorder
RS145754558 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS145754721 EFHC1 Health Risk Conflicting classifications of pathogenicity EFHC1-related disorder, Absence seizure
RS145755198 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS145755269 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS1457558516 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, FLNC-related disorder
RS145756629 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Generalized juvenile polyposis/juvenile polyposis coli
RS145756948 PDE6B Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa
RS145757313 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS145757452 TMC1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 36
RS1457574807 HNF1B Health Risk Likely pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS145758016 EVC2 Health Risk Conflicting classifications of pathogenicity Curry-Hall syndrome, Ellis-van Creveld syndrome
RS145758069 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS1457582183 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS145758265 HUWE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, HUWE1-related disorder
RS145758711 PDSS1 Health Risk Conflicting classifications of pathogenicity —
RS145758886 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1457594219 LZTR1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS145759442 RNF13 Health Risk Conflicting classifications of pathogenicity —
RS145759514 C1S Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145759754 VPS33B Health Risk Conflicting classifications of pathogenicity —
RS145760297 HECW2 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with hypotonia, seizures
RS1457604010 TBX3 Health Risk Pathogenic TBX3-related disorder, TBX3-related disorder
RS145760682 NBEAL2 Health Risk Conflicting classifications of pathogenicity Gray platelet syndrome, NBEAL2-related disorder
RS1457607996 ASL Health Risk Pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1457613214 EXT2 Health Risk Likely pathogenic Seizures-scoliosis-macrocephaly syndrome, Mesothelioma
RS145761354 APOA4 Health Risk Conflicting classifications of pathogenicity —
RS1457616370 FBXL4 Health Risk Pathogenic —
RS145762491 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group I
RS145762575 ALG9 Health Risk Conflicting classifications of pathogenicity ALG9 congenital disorder of glycosylation, ALG9-related disorder
RS145762716 GLMN Health Risk Conflicting classifications of pathogenicity Glomuvenous malformation, Blue rubber bleb nevus
RS1457631500 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS145763979 EMC1 Health Risk Likely pathogenic —
RS1457643740 FOXF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145764920 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
RS1457662393 RYR1 Health Risk Pathogenic RYR1-related disorder, King Denborough syndrome
RS1457666982 SDHA Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Mitochondrial complex II deficiency
RS1457667479 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
RS145766755 UPB1 Health Risk Conflicting classifications of pathogenicity Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase
RS145766839 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS145766983 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS1457671346 PLOD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145767631 SH3PXD2B Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
RS145768205 PCLO Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1457697672 AP3B1 Health Risk Pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS145769847 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS145770066 MED25 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2B2, Charcot-Marie-Tooth disease
RS145770391 PCSK9 Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS145770544 CRYBB3 Health Risk Conflicting classifications of pathogenicity Cataract 22 multiple types, Inborn genetic diseases
RS145771233 APOC2 Health Risk Conflicting classifications of pathogenicity Familial apolipoprotein C-II deficiency, Cardiovascular phenotype
RS145771389 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS145771708 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS1457725246 KIZ Health Risk Pathogenic —
RS145773486 GBA1 Health Risk Conflicting classifications of pathogenicity Gaucher disease type I, Gaucher disease type I
RS145774130 STX11 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 4, STX11-related disorder
RS1457743720 STRC Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS145774400 NLRP3 Health Risk Conflicting classifications of pathogenicity Cryopyrin associated periodic syndrome, Cryopyrin associated periodic syndrome
RS1457746213 COL11A2 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia
RS1457748796 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS145775350 CLCN7 Health Risk Conflicting classifications of pathogenicity Osteopetrosis, Osteopetrosis
RS145776235 IFT80 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2
RS1457762802 PDX1 Health Risk Uncertain risk allele Pancreatic hypoplasia, Pancreatic hypoplasia
RS145776307 LRIT3 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1F, Congenital stationary night blindness 1F
RS145776973 PEX13 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 11A (Zellweger), PEX13-related disorder
RS145777339 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS145777402 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS1457774840 ACSF3 Health Risk Pathogenic/Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS1457778017 MSH3 Health Risk Likely pathogenic Familial adenomatous polyposis 4, Familial adenomatous polyposis 4
RS145778165 PHEX Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, Intellectual disability
RS1457784654 ALDH3A2 Health Risk Pathogenic/Likely pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS145778937 GLI2 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
RS145779113 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS1457793607 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS1457802163 ASPA Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1457806589 SCN1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS145780832 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS145781920 LAMA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Retinal dystrophy
RS145782750 POR Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
RS1457831101 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS145784441 SLC12A1 Health Risk Conflicting classifications of pathogenicity Bartter disease type 1, Bartter disease type 1
RS145785230 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS145785746 FOXI1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS1457860223 SLC5A1 Health Risk Conflicting classifications of pathogenicity Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption
RS145786060 DNAJC19 Health Risk Pathogenic 3-methylglutaconic aciduria type 5, 3-Methylglutaconic aciduria type 3
RS145786485 EVC2 Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS145786786 AMPD1 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, AMPD1-related disorder
RS145786819 AMACR Health Risk Conflicting classifications of pathogenicity Alpha-methylacyl-CoA racemase deficiency, AMACR-related disorder
RS1457869893 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS145787161 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS1457875051 GALE Health Risk Conflicting classifications of pathogenicity UDPglucose-4-epimerase deficiency, Thrombocytopenia 13
RS145787667 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS145787738 DAAM1 Health Risk Conflicting classifications of pathogenicity Seizure, Seizure
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