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
RS761345552 CIC Health Risk Pathogenic Intellectual disability, autosomal dominant 45
RS761346369 PLOD2 Health Risk Conflicting classifications of pathogenicity Bruck syndrome 2, Bruck syndrome 2
RS761346761 FANCB Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group B
RS761347179 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS761347389 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome
RS761349153 GRXCR1 Health Risk Likely pathogenic Rare genetic deafness, Monogenic hearing loss
RS761349696 ANKH Health Risk Conflicting classifications of pathogenicity Chondrocalcinosis 2, Craniometaphyseal dysplasia
RS761350391 BBS7 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 7, Bardet-Biedl syndrome
RS761350619 ADNP Health Risk Conflicting classifications of pathogenicity ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS761350633 SDHB Health Risk Conflicting classifications of pathogenicity Cowden syndrome, Gastrointestinal stromal tumor
RS761350690 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS761350756 NPAT Health Risk Conflicting classifications of pathogenicity —
RS761351091 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS761352737 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS761353188 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS761353511 ENG Health Risk Pathogenic Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia
RS761353617 ADGRV1 Health Risk Pathogenic —
RS761353734 PTCH1 Health Risk Likely pathogenic Gorlin syndrome, Gorlin syndrome
RS761354764 COG8 Health Risk Conflicting classifications of pathogenicity COG8-congenital disorder of glycosylation, COG8-congenital disorder of glycosylation
RS761355038 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS76135678 THBD Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Thrombomodulin-related bleeding disorder
RS761357250 ATF6 Health Risk Pathogenic Achromatopsia 7, ATF6-related disorder
RS761358728 COL4A3 Health Risk Pathogenic/Likely pathogenic Alport syndrome, COL4A3-related disorder
RS761359247 ELAC2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17
RS761360623 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS761360851 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10
RS761362530 CYP4V2 Health Risk Pathogenic Bietti crystalline corneoretinal dystrophy, Retinal dystrophy
RS761364243 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS761364688 EXT2 Health Risk Conflicting classifications of pathogenicity Exostoses, multiple
RS761365669 COX15 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761367363 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Usher syndrome type 2A
RS761368099 NEXMIF Health Risk Conflicting classifications of pathogenicity —
RS761368190 ACO2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS761368563 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS761370420 SLC25A13 Health Risk Pathogenic Citrullinemia type I, Citrin deficiency
RS761372687 ASAH1 Health Risk Pathogenic Farber lipogranulomatosis, Farber lipogranulomatosis
RS761372792 TGM1 Health Risk Likely pathogenic —
RS761374262 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS761375132 GLUD1 Health Risk Conflicting classifications of pathogenicity Hyperinsulinism-hyperammonemia syndrome, Inborn genetic diseases
RS761376417 THAP1 Health Risk Conflicting classifications of pathogenicity Torsion dystonia 6, Inborn genetic diseases
RS761378464 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS761378545 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Brugada syndrome 3
RS761379794 ZNF469 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS761380468 WNK1 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C, Neuropathy
RS761380652 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS761380979 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS761382742 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS761382780 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS761383124 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Tibial muscular dystrophy
RS761385155 ELAC2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 17, Inborn genetic diseases
RS761385178 SETBP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 29
RS761385192 GALNS Health Risk Conflicting classifications of pathogenicity Morquio syndrome, Mucopolysaccharidosis
RS761385206 SCLT1 Health Risk Pathogenic —
RS761385278 DUOX2 Health Risk Pathogenic Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS761385416 CYP11B2 Health Risk Pathogenic/Likely pathogenic Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency
RS761386159 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS761386688 SCN8A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 13
RS761388039 LAMC2 Health Risk Pathogenic Epidermolysis bullosa, junctional 3A
RS761388040 AHI1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Joubert syndrome 3
RS761388176 SLC38A8 Health Risk Pathogenic/Likely pathogenic Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome, Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
RS761388824 DLC1 Health Risk Conflicting classifications of pathogenicity —
RS761388922 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Ovarian serous cystadenocarcinoma
RS761389658 DNAI2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 9
RS761389904 NDUFAF5 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Mitochondrial complex I deficiency
RS761390691 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS761390938 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS761391442 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome
RS761393058 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Congenital multicore myopathy with external ophthalmoplegia
RS761393259 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica inversa, autosomal recessive
RS761394437 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS761395846 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS761396172 GALNT3 Health Risk Pathogenic/Likely pathogenic Tumoral calcinosis, hyperphosphatemic
RS761397379 SLC12A1 Health Risk Conflicting classifications of pathogenicity Bartter disease type 1, SLC12A1-related disorder
RS761398394 RMRP Health Risk Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
RS761399081 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS761399728 GNB5 Health Risk Pathogenic Global developmental delay, Delayed speech and language development
RS761400349 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2
RS761401027 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS761401181 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
RS761401672 COQ8B Health Risk Conflicting classifications of pathogenicity —
RS761402128 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS761402403 PIK3R1 Health Risk Pathogenic Overgrowth syndrome, Overgrowth syndrome
RS761403503 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS761403504 BBS7 Health Risk Pathogenic Bardet-Biedl syndrome 7, Bardet-Biedl syndrome
RS761403505 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS761404241 ESCO2 Health Risk Pathogenic/Likely pathogenic Roberts-SC phocomelia syndrome, Roberts-SC phocomelia syndrome
RS761405097 VCAN Health Risk Conflicting classifications of pathogenicity Vitreoretinopathy, Vitreoretinopathy
RS761405340 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS76140563 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS761406257 MEGF8 Health Risk Likely pathogenic MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome
RS761406918 ABCC2 Health Risk Pathogenic/Likely pathogenic Dubin-Johnson syndrome, Dubin-Johnson syndrome
RS761407249 DNAAF2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS761407827 SPR Health Risk Pathogenic Dystonic disorder, Dopa-responsive dystonia due to sepiapterin reductase deficiency
RS761408425 KCNK4 Health Risk Conflicting classifications of pathogenicity —
RS761409446 CHD7 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome
RS761410195 TBC1D8B Health Risk Likely pathogenic Nephrotic syndrome, type 20
RS761410250 GLRA1 Health Risk Likely pathogenic —
RS761410781 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS761410867 PUS1 Health Risk Conflicting classifications of pathogenicity PUS1-related disorder, PUS1-related disorder
RS761412178 BRCA2 Health Risk Conflicting classifications of pathogenicity BRCA2-related disorder, BRCA2-related disorder
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