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
RS557878787 JPH2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS557878856 AMPD1 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
RS557880129 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS557884699 MMAB Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria, cblB type
RS557890655 ABCG8 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Sitosterolemia 1
RS557891718 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS557896607 MKS1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS557898007 KLHL40 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 8, Nemaline myopathy 8
RS557906137 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS55791823 EIF2AK3 Health Risk Conflicting classifications of pathogenicity Wolcott-Rallison dysplasia, Monogenic diabetes
RS557920637 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Inborn genetic diseases
RS55792975 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS557930357 WNK1 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C, Neuropathy
RS557932393 PKD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Polycystic kidney disease
RS557937095 PKD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS557939030 ASTN2;TRIM32 Health Risk Conflicting classifications of pathogenicity Sarcotubular myopathy, Bardet-Biedl syndrome 11
RS557939077 ATP1A3 Health Risk Pathogenic Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
RS55794205 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS557950249 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS557951372 COL7A1 Health Risk Conflicting classifications of pathogenicity —
RS557957962 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS55795842 NCF2 Health Risk Conflicting classifications of pathogenicity Granulomatous disease, chronic
RS557960320 LZTR1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS557962090 TCTN3 Health Risk Conflicting classifications of pathogenicity Orofacial-digital syndrome IV, Joubert syndrome 18
RS55796504 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS557966264 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS557967677 MYH9 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Autosomal dominant nonsyndromic hearing loss 17
RS55797424 CACNA1D Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Acute myeloid leukemia
RS557976330 COL4A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, COL4A2-related disorder
RS557979163 DNAH1 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 18, Ciliary dyskinesia
RS55798001 BIVM-ERCC5;ERCC5 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group G
RS557980103 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS557983485 TRAF3IP2 Health Risk Pathogenic Candidiasis, familial
RS557983754 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS55798804 RIPK4 Health Risk Conflicting classifications of pathogenicity Bartsocas-Papas syndrome 1, RIPK4-related disorder
RS557989446 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS55799208 CXCR2 Health Risk Conflicting classifications of pathogenicity CXCR2-related disorder, CXCR2-related disorder
RS557994288 MMACHC Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Cobalamin C disease
RS557996561 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS558000439 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS55800493 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS558005496 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS55801750 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS558019875 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS558031489 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS558035857 ZNF469 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Cardiovascular phenotype
RS558036408 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive
RS558037268 ATP7B Health Risk Likely pathogenic Wilson disease, ATP7B-related disorder
RS558040549 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS558042478 CACNA1H Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Epilepsy
RS558048038 CFHR2 Health Risk Conflicting classifications of pathogenicity —
RS558051943 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS558052679 POMGNT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2O, Congenital Muscular Dystrophy
RS558054655 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Inborn genetic diseases
RS558064127 CRPPA Health Risk Conflicting classifications of pathogenicity Congenital Muscular Dystrophy, alpha-dystroglycan related
RS558069434 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS55807335 SPTBN5 Health Risk Conflicting classifications of pathogenicity —
RS558077210 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS55808233 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS558084375 ISCU Health Risk Conflicting classifications of pathogenicity Hereditary myopathy with lactic acidosis due to ISCU deficiency, ISCU-related disorder
RS558106649 KCNC3 Health Risk Conflicting classifications of pathogenicity —
RS55810667 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS558108271 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Brittle cornea syndrome 1
RS558109660 UGT1A1 Health Risk Pathogenic/Likely pathogenic Crigler-Najjar syndrome, type II
RS55812333 UNG Health Risk Conflicting classifications of pathogenicity Hyper-IgM syndrome type 5, UNG-related disorder
RS558123422 NR2E3 Health Risk Conflicting classifications of pathogenicity Enhanced S-cone syndrome, Retinitis pigmentosa 37
RS558125416 LONP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS558135361 RNU4ATAC Health Risk Pathogenic/Likely pathogenic RNU4ATAC spectrum disorder, RNU4ATAC spectrum disorder
RS558139194 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, Proteinuria
RS558148933 IFT172 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly
RS558155146 ARID1B Health Risk Conflicting classifications of pathogenicity —
RS55816283 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Kidney disorder
RS558163499 PXDN Health Risk Pathogenic Anterior segment dysgenesis 7, Anterior segment dysgenesis 7
RS55816687 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS55816927 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS558173513 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta
RS558173961 MUTYH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS55817813 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS558180061 FGFR1 Health Risk Conflicting classifications of pathogenicity Osteoglophonic dysplasia, Craniosynostosis syndrome
RS558186319 MAGEL2 Health Risk Conflicting classifications of pathogenicity MAGEL2-related disorder, MAGEL2-related disorder
RS558187116 FKTN Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS558191127 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS558191826 OBSL1 Health Risk Conflicting classifications of pathogenicity 3M syndrome 2, 3M syndrome 2
RS558195536 MYH9 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Autosomal dominant nonsyndromic hearing loss 17
RS55819880 SERPINA1 Health Risk Pathogenic; other PI S(IIYAMA), Alpha-1-antitrypsin deficiency
RS558200846 ADCY5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS558205050 CSF2RB Health Risk Conflicting classifications of pathogenicity Surfactant metabolism dysfunction, pulmonary
RS558208878 KCNK4 Health Risk Conflicting classifications of pathogenicity —
RS55821172 TRIOBP Health Risk Conflicting classifications of pathogenicity TRIOBP-related disorder, TRIOBP-related disorder
RS55821557 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS55821615 SPEG Health Risk Conflicting classifications of pathogenicity SPEG-related disorder, SPEG-related disorder
RS55821741 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS558224639 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS558239439 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS55824172 TBK1 Health Risk Conflicting classifications of pathogenicity Motor neuron disease, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS55824746 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS558249175 SNRPB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS55824996 LAMB3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS558250151 ERCC2 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, Xeroderma pigmentosum
RS558254502 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease, Malignant tumor of esophagus
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