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
RS747870811 WDR62 Health Risk Pathogenic/Likely pathogenic —
RS747871414 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS747880281 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Primary dilated cardiomyopathy
RS747881047 REN Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Familial juvenile hyperuricemic nephropathy type 2
RS747881072 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS747881237 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS747883333 SLC35D1 Health Risk Likely pathogenic Schneckenbecken dysplasia, Schneckenbecken dysplasia
RS747886840 ATP1A2 Health Risk Conflicting classifications of pathogenicity Familial hemiplegic migraine, Inborn genetic diseases
RS747886979 HNRNPU Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 54
RS747887020 SLC52A1 Health Risk Conflicting classifications of pathogenicity Vitamin B2 deficiency, Vitamin B2 deficiency
RS747887427 DCXR Health Risk Pathogenic; Affects Essential pentosuria, DCXR-related disorder
RS747887601 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1
RS747888517 ABCB11 Health Risk Likely pathogenic Progressive familial intrahepatic cholestasis type 2, ABCB11-related disorder
RS747889116 CFAP65 Health Risk Pathogenic —
RS747889445 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS747890554 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS747890876 OPA3 Health Risk Likely pathogenic 3-Methylglutaconic aciduria type 3, Optic atrophy 3
RS747891004 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS747892390 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS747892565 MFF Health Risk Likely pathogenic Encephalopathy due to defective mitochondrial and peroxisomal fission 2, Encephalopathy due to defective mitochondrial and peroxisomal fission 2
RS747893112 MYLK Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS747893697 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis, Amyotrophic lateral sclerosis
RS747894424 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS747894786 MERTK Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS747895099 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS747895358 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
RS747895516 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS747895951 CNGA3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 2, Achromatopsia 2
RS747896279 COL9A3 Health Risk Pathogenic Inborn genetic diseases, Stickler syndrome
RS747897071 SEC63 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Polycystic liver disease 2
RS747897279 POGLUT1 Health Risk Conflicting classifications of pathogenicity POGLUT1-related disorder, POGLUT1-related disorder
RS747897332 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS747898161 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS747898678 COQ9 Health Risk Likely pathogenic Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome, Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
RS747899091 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS747899770 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS747899855 FIG4 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS747900131 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS747900252 COL6A2 Health Risk Pathogenic/Likely pathogenic Collagen 6-related myopathy, Bethlem myopathy 1A
RS747900399 TNKS2 Health Risk Conflicting classifications of pathogenicity —
RS747900630 CASP10 Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 2A
RS747901058 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS747902103 ABCC8 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Hereditary hyperinsulinism
RS747902604 NEXN Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC
RS747902950 BLVRA Health Risk Likely pathogenic Hyperbiliverdinemia, Hyperbiliverdinemia
RS747903103 BRCA2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group D1, Breast-ovarian cancer
RS747903426 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, ERCC6-related disorder
RS747903915 INF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS747904021 BBS12 Health Risk Pathogenic —
RS747904347 ELANE Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747905422 CTRC Health Risk Pathogenic/Likely pathogenic Hereditary pancreatitis, Hereditary pancreatitis
RS747905946 SLC38A8 Health Risk Pathogenic Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome, Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
RS747907706 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS747908048 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS747908108 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome
RS747908706 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS747910305 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Lymphangiomyomatosis
RS747911434 MAN1B1 Health Risk Likely pathogenic —
RS747911477 SDCCAG8 Health Risk Likely pathogenic Senior-Loken syndrome 7, Senior-Loken syndrome 7
RS747911603 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, Inborn genetic diseases
RS747911784 CERS3 Health Risk Likely pathogenic Abnormality of the skin, Autosomal recessive congenital ichthyosis 9
RS747911999 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, EYS-related disorder
RS747912710 POLR3B Health Risk Pathogenic/Likely pathogenic Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Charcot-Marie-Tooth disease
RS747912732 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Pretibial dystrophic epidermolysis bullosa
RS747913250 ACD Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 6
RS747913385 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS747914869 CEP164 Health Risk Pathogenic Nephronophthisis 15, Retinal dystrophy
RS747916036 OTX2 Health Risk Conflicting classifications of pathogenicity Pituitary hormone deficiency, combined
RS747916174 AOPEP Health Risk Likely pathogenic Dystonia 31, AOPEP-related disorder
RS747916314 LAMB3 Health Risk Pathogenic/Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS747916943 PDHB Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS747917423 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS747918239 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Inborn genetic diseases
RS747918559 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS747920338 HYLS1;PUS3 Health Risk Pathogenic —
RS747920603 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS747920711 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS747921119 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 25
RS747921988 RIMS1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 7, RIMS1-related disorder
RS747922027 FHL1 Health Risk Pathogenic X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy
RS747922528 ANKRD11 Health Risk Pathogenic —
RS747922795 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Colorectal cancer
RS747923761 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS747924946 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome
RS747926684 IFIH1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
RS747926709 TYRP1 Health Risk Pathogenic —
RS747927213 GABRA1 Health Risk Conflicting classifications of pathogenicity Epilepsy, idiopathic generalized
RS747928028 KMT2B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS74792814 RNF213 Health Risk Conflicting classifications of pathogenicity —
RS747928827 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS747929635 OTOGL Health Risk Conflicting classifications of pathogenicity —
RS747930160 PNPLA8 Health Risk Pathogenic —
RS747930349 LRRK1 Health Risk Likely pathogenic —
RS747933171 MTHFD1 Health Risk Pathogenic/Likely pathogenic Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, Neural tube defects
RS747933251 ANO5 Health Risk Conflicting classifications of pathogenicity Myopathy, ANO5-Related Muscle Diseases
RS747935160 COL2A1 Health Risk Likely pathogenic COL2A1-related disorder, COL2A1-related disorder
RS747935432 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS747935528 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS747937552 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS747938475 WDR11 Health Risk Pathogenic Intellectual developmental disorder, autosomal recessive 78
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