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
RS753467517 FARS2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14
RS753470112 GRK1 Health Risk Likely pathogenic Oguchi disease-2, Oguchi disease-2
RS753470655 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
RS753471215 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753471298 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS753471483 SETBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753472316 NPR2 Health Risk Pathogenic Short stature with nonspecific skeletal abnormalities, Acromesomelic dysplasia 1
RS753472891 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS753472937 CARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 27, Combined oxidative phosphorylation defect type 27
RS753473749 SIX3 Health Risk Pathogenic Holoprosencephaly 2, Holoprosencephaly 2
RS753473819 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS753474547 LZTR1 Health Risk Pathogenic/Likely pathogenic LZTR1-related schwannomatosis, Cardiovascular phenotype
RS753474870 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS753475025 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS753475114 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS753475896 CNOT3 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with speech delay, autism
RS753476209 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS753476926 TLR6 Health Risk risk factor Multisystem inflammatory syndrome in children, Multisystem inflammatory syndrome in children
RS753477704 KIF1B Health Risk Conflicting classifications of pathogenicity Ovarian cancer, Neuroblastoma
RS753479021 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS753480088 WDPCP Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, WDPCP-related disorder
RS753480401 ACVRL1 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS753483823 GUSB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Mucopolysaccharidosis type 7
RS75348431 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS753485021 POMT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS753485145 FANCG Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group G
RS753485165 SLC45A2 Health Risk Pathogenic Oculocutaneous albinism type 4, SKIN/HAIR/EYE PIGMENTATION 5
RS753486471 SMAD3 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS753488664 GUCY2D Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 1, Cone-rod dystrophy 6
RS753488821 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS753488873 MSTO1 Health Risk Pathogenic/Likely pathogenic Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, Inborn mitochondrial myopathy
RS753489572 COQ6 Health Risk Conflicting classifications of pathogenicity —
RS753490759 VARS2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 20, Combined oxidative phosphorylation defect type 20
RS753491072 FLCN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS753491527 SPTBN2 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 5, Inborn genetic diseases
RS753492211 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS753492974 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS753493990 TECTA Health Risk Conflicting classifications of pathogenicity Hearing loss, autosomal recessive
RS753494538 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS753495484 NHEJ1 Health Risk Likely pathogenic Cernunnos-XLF deficiency, Cernunnos-XLF deficiency
RS753496711 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Cardiovascular phenotype
RS753496815 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS753497329 PGAP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753497692 PLOD2 Health Risk Likely pathogenic —
RS753498008 OFD1 Health Risk Conflicting classifications of pathogenicity Orofaciodigital syndrome I, Joubert syndrome
RS753498044 FN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753498326 LTBP3 Health Risk Conflicting classifications of pathogenicity Brachyolmia-amelogenesis imperfecta syndrome, LTBP3-related disorder
RS753499012 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS753500354 CREBBP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Rubinstein-Taybi syndrome
RS753500924 SLC2A1 Health Risk Conflicting classifications of pathogenicity Encephalopathy due to GLUT1 deficiency, Dystonia 9
RS753501228 HOXB13 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Prostate cancer
RS753503405 MAN1B1 Health Risk Pathogenic Rafiq syndrome, MAN1B1-related disorder
RS753503617 PSEN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1V, Alzheimer disease 4
RS753503972 LMF1 Health Risk Pathogenic/Likely pathogenic —
RS753503984 GJB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth Neuropathy X, Inborn genetic diseases
RS753505066 PCSK9 Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS753505082 EGLN1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS753505084 ERCC2 Health Risk Pathogenic/Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS753505203 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS753505333 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS753506183 XPC Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum, group C
RS753506843 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS753507995 EIF2B5 Health Risk Pathogenic Vanishing white matter disease, Vanishing white matter disease
RS753508874 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A
RS753509616 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS753509905 TPP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753511073 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS753512282 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS753512677 PEX5 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS753512842 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS753514580 TRDN Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 5, Catecholaminergic polymorphic ventricular tachycardia 5
RS753515010 MYH3 Health Risk Conflicting classifications of pathogenicity Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1
RS753517219 NPHP1 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Joubert syndrome with renal defect
RS753517348 SYN1 Health Risk Pathogenic Intellectual disability, X-linked 50
RS753517944 TULP1 Health Risk Pathogenic —
RS753518915 ITGB4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753519057 LRRK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753519199 MSH5 Health Risk Likely pathogenic Non-obstructive azoospermia, Spermatogenic failure 74
RS753520553 NAGLU Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS753520867 FGFR3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, FGFR3-related disorder
RS75352090 DOCK8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Combined immunodeficiency due to DOCK8 deficiency
RS753521037 BMPR1A Health Risk Conflicting classifications of pathogenicity Generalized juvenile polyposis/juvenile polyposis coli, Hereditary cancer-predisposing syndrome
RS753521391 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS753522100 TMEM106B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753522380 PHEX Health Risk Pathogenic —
RS753523115 SLC12A3 Health Risk Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS753523567 PEX19 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 12A (Zellweger), Peroxisome biogenesis disorder 12A (Zellweger)
RS753524038 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS753526743 LDB3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS753527196 XPC Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group C
RS753527304 TTN Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiovascular phenotype
RS753527390 RFT1 Health Risk Conflicting classifications of pathogenicity RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation
RS753527559 DUOX2 Health Risk Likely pathogenic Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS753528166 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753528227 NR1H4 Health Risk Likely pathogenic —
RS753528947 D2HGDH Health Risk Pathogenic/Likely pathogenic D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1
RS753529210 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS753529923 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS753529924 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS753530916 ANK3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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