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
RS758291149 IMPG2 Health Risk Pathogenic Retinal dystrophy, Abnormality of the eye
RS758291275 SLC12A1 Health Risk Pathogenic/Likely pathogenic Bartter disease type 1, Bartter disease type 1
RS758292223 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS758293382 STAG1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758294183 TGFBR2 Health Risk Pathogenic Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
RS758295438 ARID1A Health Risk Conflicting classifications of pathogenicity —
RS758296965 ERCC8 Health Risk Conflicting classifications of pathogenicity Cockayne syndrome type 1, Cockayne syndrome type 1
RS758298374 PCNT Health Risk Pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS758298916 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS758300445 CCDC88A Health Risk Conflicting classifications of pathogenicity —
RS758300511 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS758301305 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Bloom syndrome
RS758301934 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS758303032 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS758303489 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS758303780 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS758303966 DSP Health Risk Conflicting classifications of pathogenicity Woolly hair-skin fragility syndrome, Lethal acantholytic epidermolysis bullosa
RS758304056 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Inborn genetic diseases
RS758304323 PMS2 Health Risk Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 4
RS758304537 HOGA1 Health Risk Pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS758305199 OTOF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758305388 NEFL Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1F, Charcot-Marie-Tooth disease type 2E
RS758305694 A2ML1 Health Risk Conflicting classifications of pathogenicity —
RS758306831 TAT Health Risk Pathogenic/Likely pathogenic Tyrosinemia type II, Tyrosinemia type II
RS758307405 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Inborn genetic diseases
RS758307531 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS758308334 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS758308395 SFRP4 Health Risk Likely pathogenic Pyle metaphyseal dysplasia, Pyle metaphyseal dysplasia
RS758308700 SCLT1 Health Risk Pathogenic —
RS758309022 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Generalized juvenile polyposis/juvenile polyposis coli
RS758311066 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS758311406 BLM Health Risk Likely pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS758312194 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758312302 EPHB4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS758312365 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS758312819 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS758312955 CAPN1 Health Risk Pathogenic Autosomal recessive spastic paraplegia type 76, Autosomal recessive spastic paraplegia type 76
RS758314164 DYRK1A Health Risk Conflicting classifications of pathogenicity DYRK1A-related intellectual disability syndrome, Inborn genetic diseases
RS758314268 COL5A2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS758314489 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hepatocellular carcinoma
RS758314845 MRE11 Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia-like disorder 1, Hereditary cancer-predisposing syndrome
RS758315191 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS758316406 RNF43 Health Risk Conflicting classifications of pathogenicity —
RS758316679 ABHD12 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS758317410 TP63 Health Risk Conflicting classifications of pathogenicity TP63-Related Spectrum Disorders, 7 conditions
RS758318135 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS758320436 DCTN1 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS758320488 PUS3 Health Risk Pathogenic Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome, Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
RS758320697 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS758320958 MEF2C Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS758321083 LDLRAP1 Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS758322157 ABCA1 Health Risk Conflicting classifications of pathogenicity Hypoalphalipoproteinemia, primary
RS758322225 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, CPLANE1-related disorder
RS758322369 FOXE3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Congenital primary aphakia
RS758322672 DNAJB2 Health Risk Likely pathogenic Neuronopathy, distal hereditary motor
RS758322775 GRN Health Risk Conflicting classifications of pathogenicity GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS758323919 EPB42 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, Inborn genetic diseases
RS758324153 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS758324905 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Respiratory ciliopathies including non-CF bronchiectasis
RS758325102 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS758325274 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS758325986 PIGQ Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS758326249 CLCN2 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Epilepsy
RS758327487 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS758327681 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS758327704 PKLR Health Risk Conflicting classifications of pathogenicity —
RS758329415 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS758329611 CEP290 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS758330038 SALL1 Health Risk Conflicting classifications of pathogenicity Townes syndrome, Townes syndrome
RS758330344 PKD1L1 Health Risk Pathogenic —
RS758334393 GPR179 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758335218 NXF5 Health Risk Conflicting classifications of pathogenicity —
RS758335896 SLC4A1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 4, 11 conditions
RS758336721 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS758337239 SYNE1 Health Risk Pathogenic —
RS758337476 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS758337699 COL5A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, classic type
RS758337994 EGLN1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS758338350 HPS5 Health Risk Pathogenic/Likely pathogenic HPS5-related disorder, HPS5-related disorder
RS758338728 SIAE Health Risk Conflicting classifications of pathogenicity —
RS758339239 ABCB11 Health Risk Conflicting classifications of pathogenicity ABCB11-related disorder, Benign recurrent intrahepatic cholestasis type 2
RS758339439 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS758340382 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, Inborn genetic diseases
RS758340709 TAOK1 Health Risk Likely pathogenic Developmental delay with or without intellectual impairment or behavioral abnormalities, Developmental delay with or without intellectual impairment or behavioral abnormalities
RS758341181 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS758341467 ERCC6 Health Risk Pathogenic Cerebrooculofacioskeletal syndrome 1, ERCC6-related disorder
RS758341603 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hoyeraal-Hreidarsson syndrome
RS758341965 CRB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758342140 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS758343834 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS758344926 ZNF142 Health Risk Likely pathogenic —
RS758345399 CASK Health Risk Conflicting classifications of pathogenicity Intellectual disability, CASK-related
RS758345818 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS758346045 KCNE1 Health Risk Pathogenic Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5
RS758347578 FAH Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I
RS758348186 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 1, Autosomal dominant nocturnal frontal lobe epilepsy
RS758349851 TTPA Health Risk Pathogenic/Likely pathogenic Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E
RS758351823 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS758351838 MBD4 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Tumor predisposition syndrome 2
RS758352210 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
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