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
RS145303578 VPS33B Health Risk Conflicting classifications of pathogenicity VPS33B-related disorder, Arthrogryposis
RS1453036708 HSD11B2 Health Risk Likely pathogenic Apparent mineralocorticoid excess, Apparent mineralocorticoid excess
RS145303691 ACTG1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2
RS1453037467 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS145303759 TRAK1 Health Risk Conflicting classifications of pathogenicity —
RS145304845 AIPL1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 4, Leber congenital amaurosis 4
RS1453053718 MYO7A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS145306016 HINT1 Health Risk Pathogenic Autosomal recessive axonal neuropathy with neuromyotonia, Autosomal recessive axonal neuropathy with neuromyotonia
RS145306517 ESPN Health Risk Conflicting classifications of pathogenicity ESPN-related disorder, ESPN-related disorder
RS145307638 SUCO Health Risk Conflicting classifications of pathogenicity Clear cell carcinoma of kidney, Melanoma
RS145308734 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS145309168 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS145309218 VANGL1 Health Risk Conflicting classifications of pathogenicity Neural tube defect, Sacral defect with anterior meningocele
RS145310035 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Congenital muscular dystrophy due to partial LAMA2 deficiency
RS145310298 DOLK Health Risk Conflicting classifications of pathogenicity DK1-congenital disorder of glycosylation, Cardiovascular phenotype
RS145310733 RAD51C Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS1453109539 SLC26A4 Health Risk Conflicting classifications of pathogenicity —
RS1453114200 LZTR1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS145312875 POLRMT Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation deficiency 55, Combined oxidative phosphorylation deficiency 55
RS145312923 CISD2 Health Risk Conflicting classifications of pathogenicity CISD2-related disorder, CISD2-related disorder
RS1453130615 CPAP Health Risk Likely pathogenic —
RS1453136762 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS145313679 GNPTG Health Risk Conflicting classifications of pathogenicity GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS145314043 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-Related Spectrum Disorders
RS145314226 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, ITGB4-related disorder
RS1453148905 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS145315080 TNC Health Risk Conflicting classifications of pathogenicity TNC-related disorder, TNC-related disorder
RS1453151719 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1453153749 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS145315496 ERCC4 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group F
RS145315673 SPTB Health Risk Conflicting classifications of pathogenicity SPTB-related disorder, Inborn genetic diseases
RS145316350 FOXC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145316385 MRTFA Health Risk Conflicting classifications of pathogenicity —
RS1453167097 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Adrenocortical carcinoma
RS1453170969 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS145317306 ALG1 Health Risk Conflicting classifications of pathogenicity ALG1-congenital disorder of glycosylation, Inborn genetic diseases
RS145318018 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, NBAS-related disorder
RS145318499 PPL Health Risk Conflicting classifications of pathogenicity —
RS145319149 C1QTNF5;MFRP Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 5, Late-onset retinal degeneration
RS145319352 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, Familial dysautonomia
RS145319741 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17
RS145320643 ZMYND10 Health Risk Likely pathogenic Primary ciliary dyskinesia 22, Primary ciliary dyskinesia 22
RS145321084 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, EYS-related disorder
RS145321940 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Cardiovascular phenotype
RS1453222016 KDM1A Health Risk Conflicting classifications of pathogenicity Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome, Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
RS1453224514 PIGN Health Risk Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS145322467 SLC25A22 Health Risk Conflicting classifications of pathogenicity Early myoclonic encephalopathy, Developmental and epileptic encephalopathy
RS1453232417 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Inborn genetic diseases
RS145323424 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS145323719 GCK Health Risk Conflicting classifications of pathogenicity —
RS145324453 KIF7 Health Risk Pathogenic Acrocallosal syndrome, Acrocallosal syndrome
RS145325518 MITF Health Risk Conflicting classifications of pathogenicity Waardenburg syndrome type 2A, Tietz syndrome
RS145325764 CNGB1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1453259977 AHDC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1453265480 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS1453271838 FGFR3 Health Risk Conflicting classifications of pathogenicity Lacrimoauriculodentodigital syndrome 2, Lacrimoauriculodentodigital syndrome 2
RS145327298 HPS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1453282096 IFT172 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly
RS145329086 TMEM70 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
RS145329294 DNAJC6 Health Risk Conflicting classifications of pathogenicity Juvenile onset Parkinson disease 19A, DNAJC6-related disorder
RS145329506 PAX6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant keratitis, Anophthalmia-microphthalmia syndrome
RS1453306308 USH2A Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS145331792 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Inborn genetic diseases
RS145334204 BRD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145334570 SLCO1B3 Health Risk Conflicting classifications of pathogenicity Rotor syndrome, Rotor syndrome
RS1453356354 PKD1L1 Health Risk Likely pathogenic —
RS1453357668 POLE Health Risk Pathogenic —
RS1453372448 MSH3 Health Risk Pathogenic/Likely pathogenic Endometrial carcinoma, Familial adenomatous polyposis 4
RS1453375461 KDM6B Health Risk Likely pathogenic Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
RS145337602 SLC12A3 Health Risk Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia, SLC12A3-related disorder
RS145338298 IFT27 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS145338910 CBS Health Risk Conflicting classifications of pathogenicity HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS1453391298 INF2 Health Risk Conflicting classifications of pathogenicity INF2-related disorder, Focal segmental glomerulosclerosis 5
RS1453392906 COL2A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145339415 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Acrocallosal syndrome
RS1453395591 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS1453402449 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS145340252 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS145340454 TRRAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145342353 FAT4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hennekam lymphangiectasia-lymphedema syndrome 2
RS1453429915 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS1453431411 CRPPA Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS145343254 SH3PXD2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145343609 COL11A2 Health Risk Conflicting classifications of pathogenicity Otospondylomegaepiphyseal dysplasia, autosomal recessive
RS145343957 PKD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, Polycystic kidney disease
RS145344421 ALOX12B Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 2, ALOX12B-related disorder
RS1453448143 DYNC2H1 Health Risk Pathogenic Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS1453451895 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS145345675 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS145345995 PDHX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145346135 TRAF3IP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1453462442 TTC21B Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1453464360 TG Health Risk Likely pathogenic —
RS145346590 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, Chorea-acanthocytosis
RS1453468510 CYBB Health Risk Pathogenic/Likely pathogenic Granulomatous disease, chronic
RS145347140 STX11 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis, Familial hemophagocytic lymphohistiocytosis 4
RS145347741 CFH Health Risk Conflicting classifications of pathogenicity Basal laminar drusen, Age related macular degeneration 4
RS145347771 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Joubert syndrome 17
RS145347909 NDUFS4 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, NDUFS4-related disorder
RS145349375 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group I
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