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
RS371544149 MSTO1 Health Risk Conflicting classifications of pathogenicity —
RS371544233 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS371544695 SLC26A4 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
RS371544808 EPB41L1 Health Risk Conflicting classifications of pathogenicity —
RS371544984 HOXB13 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Prostate cancer
RS371545683 ASXL1 Health Risk Conflicting classifications of pathogenicity —
RS371546179 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Basal cell carcinoma
RS371546359 NFU1 Health Risk Likely pathogenic Multiple mitochondrial dysfunctions syndrome 1, Multiple mitochondrial dysfunctions syndrome 1
RS371546950 GLB1 Health Risk Conflicting classifications of pathogenicity GM1 gangliosidosis, Mucopolysaccharidosis
RS371547661 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Cardiovascular phenotype
RS371548080 ITGB2 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency 1, ITGB2-related disorder
RS371548640 KIF5A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 10, Spastic paraplegia
RS371548876 MYO15A Health Risk Conflicting classifications of pathogenicity —
RS371549771 LAMA1 Health Risk Conflicting classifications of pathogenicity Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
RS371549948 PGAP3 Health Risk Likely pathogenic Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4
RS371549995 PAX5 Health Risk Conflicting classifications of pathogenicity PAX5-related disorder, Inborn genetic diseases
RS371550084 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS371550147 ACAD8 Health Risk Conflicting classifications of pathogenicity Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase
RS371550264 ACADS Health Risk Conflicting classifications of pathogenicity Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS371550819 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS371551170 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS371551313 HPS3 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome
RS371551881 COL11A1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Connective tissue disorder
RS371552518 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS371552521 MYLK Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Aortic aneurysm
RS371553160 RNF43 Health Risk Conflicting classifications of pathogenicity Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS371553659 SH2D1A Health Risk Conflicting classifications of pathogenicity X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency
RS371555137 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS371555180 FBXO38 Health Risk Conflicting classifications of pathogenicity Distal hereditary motor neuropathy type 2, Distal hereditary motor neuropathy type 2
RS371556220 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, ankyrin-B-related
RS371558035 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS371558158 CNGA3 Health Risk Pathogenic Achromatopsia, Achromatopsia
RS371560438 PRDX3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive cerebellar ataxia, Spinocerebellar ataxia
RS371560611 LMX1B Health Risk Conflicting classifications of pathogenicity Nail-patella syndrome, Nail-patella-like renal disease
RS371561039 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS371561646 LDLRAP1 Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS371562008 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS371562555 TYRP1 Health Risk Pathogenic —
RS371562763 HCN4 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 8, Cardiovascular phenotype
RS371563258 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS371563402 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS371564200 MYBPC3 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Primary dilated cardiomyopathy
RS371564913 NBAS Health Risk Conflicting classifications of pathogenicity —
RS371565133 JPH2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS371565364 FOLR1 Health Risk Conflicting classifications of pathogenicity Cerebral folate transport deficiency, Inborn genetic diseases
RS371565755 SHANK3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SHANK3-related disorder
RS371565831 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS371566102 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, Inborn genetic diseases
RS371566475 RYR1 Health Risk Conflicting classifications of pathogenicity Myopathy, RYR1-associated
RS371567511 DPYS Health Risk Conflicting classifications of pathogenicity —
RS371567728 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation
RS371569147 BCKDK Health Risk Likely pathogenic —
RS371569398 SBF1 Health Risk Conflicting classifications of pathogenicity —
RS371570973 IFT122 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS371570995 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS371571488 COL6A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Bethlem myopathy 1A
RS371572450 VPS45 Health Risk Conflicting classifications of pathogenicity Congenital neutropenia-myelofibrosis-nephromegaly syndrome, Congenital neutropenia-myelofibrosis-nephromegaly syndrome
RS371572977 AP1S1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, AP1S1-related disorder
RS371573041 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS371573253 NGLY1 Health Risk Conflicting classifications of pathogenicity Congenital disorder of deglycosylation, Inborn genetic diseases
RS371575563 NEK1 Health Risk Pathogenic Amyotrophic lateral sclerosis, susceptibility to
RS371576207 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS371576722 XPC Health Risk Conflicting classifications of pathogenicity Ovarian cancer, Ovarian cancer
RS371576999 WNT5A Health Risk Conflicting classifications of pathogenicity —
RS371577788 MTTP Health Risk Likely pathogenic —
RS371577901 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS371578161 MAP3K1 Health Risk Conflicting classifications of pathogenicity 46, XY sex reversal 6
RS371580053 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS371580084 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS371580094 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS371581072 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS371581213 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Café-au-lait macules with pulmonary stenosis
RS371582179 GLB1 Health Risk Pathogenic/Likely pathogenic GM1 gangliosidosis type 2, Infantile GM1 gangliosidosis
RS371582357 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS371582393 ECHS1 Health Risk Conflicting classifications of pathogenicity Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS371582757 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS371582975 CEP290 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Nephronophthisis
RS371583300 DNAH8 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS371583734 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS371585154 HSD17B4 Health Risk Likely pathogenic Perrault syndrome, Bifunctional peroxisomal enzyme deficiency
RS371585389 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Duchenne muscular dystrophy
RS371586634 EEF2 Health Risk Conflicting classifications of pathogenicity —
RS371587906 MCCC2 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS371588106 MCOLN1 Health Risk Conflicting classifications of pathogenicity Mucolipidosis type IV, Mucolipidosis type IV
RS371588290 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Duchenne muscular dystrophy
RS371589105 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Patterned macular dystrophy 2
RS371589575 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex with nail dystrophy
RS371591881 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS371592549 TTPA Health Risk Conflicting classifications of pathogenicity Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E
RS371593463 ERBB4 Health Risk Conflicting classifications of pathogenicity —
RS371593605 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS371594190 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS371594330 ATRIP Health Risk Conflicting classifications of pathogenicity —
RS371595122 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Joubert syndrome 17
RS371595464 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS371595543 CCDC40 Health Risk Pathogenic Primary ciliary dyskinesia, CCDC40-related disorder
RS371595632 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Hematuria
RS371595770 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS371596040 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS371596417 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
« Prev 1 ... 2678 2679 2680 2681 2682 2683 2684 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →