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
RS200144784 ITGB2 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS200144865 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS200144944 COG1 Health Risk Conflicting classifications of pathogenicity COG1 congenital disorder of glycosylation, COG1 congenital disorder of glycosylation
RS200144991 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS200144997 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS200145279 AHNAK2 Health Risk Conflicting classifications of pathogenicity —
RS200145506 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS200145797 UPB1 Health Risk Conflicting classifications of pathogenicity Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase
RS200145855 HADHA Health Risk Conflicting classifications of pathogenicity Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS200146361 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, MYO15A-related disorder
RS200146448 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypobetalipoproteinemia, Hypercholesterolemia
RS200146486 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Alport syndrome
RS200146604 MMP9 Health Risk Conflicting classifications of pathogenicity Gastric cancer, Gastric cancer
RS200146608 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS200147473 WRAP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer, Hereditary cancer
RS200147487 MAN1B1 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Rafiq syndrome
RS200147602 SLC37A4 Health Risk Conflicting classifications of pathogenicity Glucose-6-phosphate transport defect, Inborn genetic diseases
RS200147726 AHNAK Health Risk Conflicting classifications of pathogenicity —
RS200147804 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS200147906 OTOF Health Risk Pathogenic Rare genetic deafness, Hearing loss
RS200148139 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS200148505 ABCB11 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS200148749 KCNV2 Health Risk Pathogenic Cone dystrophy with supernormal rod response, Cone dystrophy with supernormal rod response
RS200148764 CARD10 Health Risk risk factor Primary open angle glaucoma, Primary open angle glaucoma
RS200149062 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS200149256 MKS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 13, Meckel syndrome
RS200149635 PLCG2 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3
RS200149713 JPH2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS200149883 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Intellectual disability
RS200149939 SLC10A1 Health Risk Conflicting classifications of pathogenicity —
RS200149971 PKHD1L1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 124, Autosomal recessive nonsyndromic hearing loss 124
RS200150335 TOP3A Health Risk Pathogenic/Likely pathogenic Microcephaly, growth restriction
RS200150384 ITGB2 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS200150763 KIAA1549 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200150979 NHP2 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Dyskeratosis congenita
RS200151282 FLVCR1 Health Risk Conflicting classifications of pathogenicity —
RS200151353 MPZ Health Risk Conflicting classifications of pathogenicity 7 conditions, Charcot-Marie-Tooth disease
RS200151467 COL4A5 Health Risk Conflicting classifications of pathogenicity COL4A5-related disorder, X-linked Alport syndrome
RS200151492 WNT1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Inborn genetic diseases
RS200151646 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, APC-Associated Polyposis Disorders
RS200151675 EPG5 Health Risk Conflicting classifications of pathogenicity Vici syndrome, EPG5-related disorder
RS200151849 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS200151910 TRPM1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1C, Congenital stationary night blindness 1C
RS200152114 PCK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200152314 DCHS1 Health Risk Conflicting classifications of pathogenicity —
RS200152499 SEC23B Health Risk Conflicting classifications of pathogenicity Cowden syndrome 7, Congenital dyserythropoietic anemia
RS200152990 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS200153024 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS200153557 MYOM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS200153625 MYH6 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 14
RS200153638 COL9A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200153795 RAX2 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 95, Retinitis pigmentosa 95
RS200153921 ZNF469 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Ehlers-Danlos syndrome
RS200154326 ACADSB Health Risk Conflicting classifications of pathogenicity Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase
RS200154414 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 15
RS200154542 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, Familial dysautonomia
RS200154603 SETX Health Risk Likely pathogenic Spinocerebellar ataxia, autosomal recessive
RS200154696 PEX14 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 13A (Zellweger), Peroxisome biogenesis disorder
RS200154873 NLRP3 Health Risk Likely pathogenic Keratitis fugax hereditaria, Keratitis fugax hereditaria
RS200154987 GAA Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Glycogen storage disease
RS200155485 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS200155519 PCDH15 Health Risk Conflicting classifications of pathogenicity PCDH15-related disorder, PCDH15-related disorder
RS200155666 INF2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Focal segmental glomerulosclerosis 5
RS200155807 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS200156015 RETREG1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS200156713 SH3BP2 Health Risk Conflicting classifications of pathogenicity Fibrous dysplasia of jaw, Fibrous dysplasia of jaw
RS200156751 MKS1 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS200156887 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS200157006 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS200157166 MME Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200157227 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS200157359 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS200157467 PRKN Health Risk Conflicting classifications of pathogenicity Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2
RS200157761 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, DHCR7-related disorder
RS200158182 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS200158282 DIP2C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200158932 CSPP1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 21, CSPP1-related disorder
RS200159456 ITGB2 Health Risk Likely pathogenic Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS200160575 SNIP1 Health Risk Conflicting classifications of pathogenicity Psychomotor retardation, epilepsy
RS200160665 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS200160715 FAM161A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS200160724 SAMD9L Health Risk Conflicting classifications of pathogenicity SAMD9L-related disorder, Inborn genetic diseases
RS200160846 TYRP1 Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 3, Oculocutaneous albinism type 3
RS200160858 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS200161147 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS200161281 UPB1 Health Risk Conflicting classifications of pathogenicity Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase
RS200161705 NEK1 Health Risk Conflicting classifications of pathogenicity Motor neuron disease, Short-rib thoracic dysplasia 6 with or without polydactyly
RS200161877 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS200161949 FANCB Health Risk Conflicting classifications of pathogenicity Fanconi anemia, FANCB-related disorder
RS200162480 TXNRD2 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Primary dilated cardiomyopathy
RS200162521 PLEKHG5 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS200162591 VIPAS39 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200163005 DEAF1 Health Risk Conflicting classifications of pathogenicity DEAF1-related disorder, DEAF1-related disorder
RS200163049 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS200163654 SPTBN5 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder, Sarcoma
RS200163716 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS200163743 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, Congenital myopathy 10b
RS200163795 NR5A1 Health Risk Conflicting classifications of pathogenicity 46, XY disorder of sex development
RS200163818 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS200164212 TGFB1 Health Risk Conflicting classifications of pathogenicity —
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