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
RS763186957 UNC93B1 Health Risk Conflicting classifications of pathogenicity Herpes simplex encephalitis, susceptibility to
RS763187824 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS763187844 COL6A3 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS763188696 DNASE2 Health Risk Conflicting classifications of pathogenicity —
RS763189178 RBM20 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1DD
RS763189331 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS763189481 DNMT3A Health Risk Conflicting classifications of pathogenicity Tatton-Brown-Rahman overgrowth syndrome, DNMT3A-related disorder
RS763190690 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Autoinflammatory syndrome
RS763190774 HPS4 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS763190974 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS763190982 IL12B Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
RS763191051 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS763191618 TERT Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 2
RS763191684 ASS1 Health Risk Pathogenic/Likely pathogenic Citrullinemia, ASS1-related disorder
RS763191789 SLC25A13 Health Risk Pathogenic Citrin deficiency, Citrullinemia
RS763191889 NRL Health Risk Pathogenic Retinitis pigmentosa 27, ENHANCED S-CONE SYNDROME 2
RS763192047 COPA Health Risk Conflicting classifications of pathogenicity Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases
RS763192623 RORB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Epilepsy
RS763193925 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763195324 CYP11B1 Health Risk Pathogenic/Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Glucocorticoid-remediable aldosteronism
RS763195944 MKRN3 Health Risk Pathogenic Precocious puberty, central
RS763197055 COL13A1 Health Risk Likely pathogenic Congenital myasthenic syndrome 19, Congenital myasthenic syndrome 19
RS763197267 CYP11B2 Health Risk Conflicting classifications of pathogenicity Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency
RS763198301 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS763198695 SLC26A2 Health Risk Pathogenic/Likely pathogenic Multiple epiphyseal dysplasia type 4, Atelosteogenesis type II
RS763198737 HARS1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 3B, Usher syndrome type 3B
RS763198861 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, DYSF-related disorder
RS763198914 TH Health Risk Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS763199410 COL11A1 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 1, Marshall syndrome
RS763199524 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS763199691 PKD1 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS763201344 SCN8A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS763202121 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS763202322 HFM1 Health Risk Likely pathogenic Premature ovarian failure 9, Premature ovarian failure 9
RS763202430 CYP7B1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 5A, Spastic paraplegia
RS763203596 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS763204242 TNNT2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 2, Cardiomyopathy
RS763204317 BCL11B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763204750 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763204818 HSD17B4 Health Risk Conflicting classifications of pathogenicity Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency
RS763205133 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS763205408 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS763206332 PCARE Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS763207005 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS763208216 KCNA3 Health Risk Likely pathogenic KCNA3-associated developmental and epileptic encephalopathy, KCNA3-associated developmental and epileptic encephalopathy
RS763208217 MMUT Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS763209907 CRPPA Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS763210407 SOX10 Health Risk Likely pathogenic Waardenburg syndrome type 4C, Waardenburg syndrome type 4C
RS763211298 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS763211430 EP300 Health Risk Conflicting classifications of pathogenicity EP300-related disorder, Inborn genetic diseases
RS763212024 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS763212039 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS763212052 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, Inborn genetic diseases
RS763213265 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS763215003 ARHGAP31 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763216072 SLC7A9 Health Risk Conflicting classifications of pathogenicity Cystinuria, Cystinuria
RS763216519 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS763216820 AAAS Health Risk Pathogenic AAAS-related disorder, AAAS-related disorder
RS763217037 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS763217521 UGT1A1 Health Risk Conflicting classifications of pathogenicity UGT1A1-related disorder, UGT1A1-related disorder
RS763217657 HIVEP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763217879 SPTLC2 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS76321849 ABCA1 Health Risk Conflicting classifications of pathogenicity Hypoalphalipoproteinemia, primary
RS763219039 OCA2 Health Risk Pathogenic/Likely pathogenic Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1
RS763219658 OFD1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Orofaciodigital syndrome I
RS763220502 SLC2A10 Health Risk Pathogenic/Likely pathogenic Arterial tortuosity syndrome, Thoracic aortic aneurysm or dissection
RS763222026 LIG4 Health Risk Conflicting classifications of pathogenicity DNA ligase IV deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS763223038 AMT Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy 1
RS763223371 FOXP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome
RS763224059 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy
RS763224132 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS763224175 SPG11 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia
RS763225328 FLG Health Risk Pathogenic/Likely pathogenic Ichthyosis vulgaris, Dermatitis
RS763226083 DCTN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Amyotrophic lateral sclerosis type 1
RS763226471 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS763226787 CEP290 Health Risk Likely pathogenic Nephronophthisis, Meckel-Gruber syndrome
RS763226980 TNFRSF11A Health Risk Conflicting classifications of pathogenicity —
RS763228065 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A
RS763229085 TREX1 Health Risk Pathogenic Aicardi-Goutieres syndrome 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
RS763231900 MAN2C1 Health Risk Likely pathogenic Congenital disorder of deglycosylation 2, Congenital disorder of deglycosylation 2
RS763233960 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS763235691 VCL Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiovascular phenotype
RS763236375 GATA3 Health Risk Pathogenic Hypoparathyroidism, deafness
RS763237578 NALCN Health Risk Likely pathogenic —
RS763238622 DNAH9 Health Risk Pathogenic Ciliary dyskinesia, primary
RS763238645 KIF7 Health Risk Likely pathogenic Hydrolethalus syndrome 2, Acrocallosal syndrome
RS763238672 TMPO Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
RS763238723 ADGRG1 Health Risk Pathogenic/Likely pathogenic Polymicrogyria, bilateral perisylvian
RS763239330 TRAF3IP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763239475 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS763239874 MYH3 Health Risk Pathogenic Contractures, pterygia
RS763240240 FANCF Health Risk Likely pathogenic Fanconi anemia complementation group F, Fanconi anemia complementation group F
RS763240431 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiovascular phenotype
RS763241302 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS763241810 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Familial spontaneous pneumothorax
RS763241827 SLC2A1 Health Risk Conflicting classifications of pathogenicity GLUT1 deficiency syndrome 1, autosomal recessive
RS763242057 TTN Health Risk Conflicting classifications of pathogenicity —
RS763242241 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS763243011 ADGRV1 Health Risk Pathogenic —
RS763243200 PKDCC Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Rhizomelic limb shortening with dysmorphic features
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