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
RS137886232 RAD51D Health Risk Pathogenic Breast-ovarian cancer, familial
RS137886839 CACNB2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome 4
RS137886900 TK2 Health Risk Pathogenic Mitochondrial disease, Mitochondrial DNA depletion syndrome
RS1378869804 SMAD4 Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS1378870937 CEP63 Health Risk Pathogenic —
RS1378877596 CACNA1E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1378884779 KMT2B Health Risk Conflicting classifications of pathogenicity —
RS137889316 NDUFS1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS1378898437 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS137890886 WARS2 Health Risk Pathogenic Neurodevelopmental disorder, mitochondrial
RS137890991 ASPM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Microcephaly 5
RS137891079 C9 Health Risk Conflicting classifications of pathogenicity Complement component 9 deficiency, Age related macular degeneration 15
RS1378912528 CDKL5 Health Risk Conflicting classifications of pathogenicity Angelman syndrome-like, Developmental and epileptic encephalopathy
RS137891381 FREM2 Health Risk Conflicting classifications of pathogenicity Isolated cryptophthalmia, Fraser syndrome 2
RS137891647 LIPT1 Health Risk Pathogenic/Likely pathogenic Lipoyl transferase 1 deficiency, Lipoyl transferase 1 deficiency
RS137892259 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS137892407 AKAP9 Health Risk Conflicting classifications of pathogenicity Wolff-Parkinson-White pattern, Long QT syndrome
RS137892861 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS137893207 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Cardiomyopathy
RS137893258 SLC12A1 Health Risk Conflicting classifications of pathogenicity Bartter disease type 1, SLC12A1-related disorder
RS137893541 MC2R Health Risk Conflicting classifications of pathogenicity Glucocorticoid deficiency 1, Glucocorticoid deficiency 1
RS1378936510 RAG1 Health Risk Pathogenic/Likely pathogenic Combined immunodeficiency due to partial RAG1 deficiency, Severe combined immunodeficiency
RS1378940472 ZBTB24 Health Risk Pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2
RS137894161 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases
RS137894496 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1378945842 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS137894635 TRPV3 Health Risk Conflicting classifications of pathogenicity Isolated focal non-epidermolytic palmoplantar keratoderma, Inborn genetic diseases
RS137895267 EPB41 Health Risk Conflicting classifications of pathogenicity Elliptocytosis 1, Inborn genetic diseases
RS1378962389 PIGO Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS1378972597 PPARG Health Risk Likely pathogenic PPARG-related familial partial lipodystrophy, PPARG-related familial partial lipodystrophy
RS1378972928 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS137897304 RAB3GAP2 Health Risk Conflicting classifications of pathogenicity Warburg micro syndrome 2, Martsolf syndrome
RS137897678 GCGR Health Risk Conflicting classifications of pathogenicity —
RS137898199 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS1378981995 ARL13B Health Risk Pathogenic Joubert syndrome 8, Joubert syndrome and related disorders
RS137899535 CERS3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS137899554 OTC Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Inborn genetic diseases
RS137899688 SYNE4 Health Risk Conflicting classifications of pathogenicity SYNE4-related disorder, SYNE4-related disorder
RS1379006499 PAX3 Health Risk Conflicting classifications of pathogenicity Waardenburg syndrome type 1, Waardenburg syndrome type 1
RS137901051 ZNF335 Health Risk Conflicting classifications of pathogenicity ZNF335-related disorder, Inborn genetic diseases
RS137901350 GINS1 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to GINS1 deficiency, GINS1-related disorder
RS137901435 FOXI1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 4, FOXI1-related disorder
RS137901677 POLG2 Health Risk Conflicting classifications of pathogenicity —
RS137902889 C2 Health Risk Conflicting classifications of pathogenicity Complement component 2 deficiency, Age related macular degeneration 14
RS137903471 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS137903539 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS137903612 TMPRSS3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8
RS1379042100 ANO5 Health Risk Likely pathogenic —
RS137905181 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS1379052702 B3GALNT2 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS1379054137 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS137905486 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Duchenne muscular dystrophy
RS137905643 PKD1 Health Risk Conflicting classifications of pathogenicity PKD1-related disorder, Polycystic kidney disease
RS137906617 CLN3 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 3, Neuronal ceroid lipofuscinosis
RS137906740 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Episodic pain syndrome
RS137906877 IFT172 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS137907278 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Cardiovascular phenotype
RS137907310 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Spastic paraplegia
RS137907943 PIGQ Health Risk Conflicting classifications of pathogenicity Epilepsy, Inborn genetic diseases
RS137909022 NIPAL4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6
RS1379093488 KCNH1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS137909416 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1379104498 FOXH1 Health Risk Likely pathogenic Conotruncal defect, Conotruncal defect
RS1379106674 ZNF462 Health Risk Pathogenic Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
RS137912192 PCNT Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS137912216 MMP2 Health Risk Conflicting classifications of pathogenicity Multicentric osteolysis nodulosis arthropathy spectrum, Multicentric osteolysis nodulosis arthropathy spectrum
RS137912857 HR Health Risk Conflicting classifications of pathogenicity Atrichia with papular lesions, Alopecia universalis congenita
RS137912936 ATRIP Health Risk Conflicting classifications of pathogenicity —
RS137913973 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS137914057 RTEL1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 5
RS1379150952 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS137915238 HEXB Health Risk Conflicting classifications of pathogenicity Sandhoff disease, Sandhoff disease
RS137916023 TECTA Health Risk Conflicting classifications of pathogenicity —
RS137916380 MICAL1 Health Risk Conflicting classifications of pathogenicity —
RS137916856 TRAF3 Health Risk Conflicting classifications of pathogenicity Herpes simplex encephalitis, susceptibility to
RS137917062 PLS3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1379171478 CDH23 Health Risk Pathogenic/Likely pathogenic Pituitary adenoma 5, multiple types
RS137917233 SUMF1 Health Risk Conflicting classifications of pathogenicity Multiple sulfatase deficiency, SUMF1-related disorder
RS1379184772 POMGNT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS137918672 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1
RS137919286 F7 Health Risk Pathogenic F7-related disorder, F7-related disorder
RS137919504 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS137919524 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS137919897 WDR62 Health Risk Conflicting classifications of pathogenicity WDR62-related disorder, WDR62-related disorder
RS137920189 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1379211438 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS137922672 KIF23 Health Risk Conflicting classifications of pathogenicity KIF23-related disorder, KIF23-related disorder
RS137922867 YARS2 Health Risk Conflicting classifications of pathogenicity Myopathy, lactic acidosis
RS137923508 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A3-related disorder
RS137923783 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS137923863 CDH15 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 3
RS137924205 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17
RS137924231 DNAAF5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS137924716 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS137924872 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS137925244 TMEM237 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 14, Joubert syndrome 14
RS137925439 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS137925718 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, IFT140-related disorder
RS137926228 LIPC Health Risk Conflicting classifications of pathogenicity High density lipoprotein cholesterol level quantitative trait locus 12, Hyperlipidemia due to hepatic triglyceride lipase deficiency
RS137926355 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, CHEK2-related disorder
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