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
RS368875210 ACADM Health Risk Conflicting classifications of pathogenicity Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS368876195 SPTAN1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS368876333 NDUFS4 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS368876795 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS368877140 MYO7A Health Risk Pathogenic —
RS368877287 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS368877793 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS368878445 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS368879058 SLITRK5 Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS368880414 FLCN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS368881818 GRIN2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Landau-Kleffner syndrome
RS368883473 ADGRG1 Health Risk Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
RS368883685 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS368883957 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS368884003 COL4A4 Health Risk Conflicting classifications of pathogenicity Benign familial hematuria, Autosomal recessive Alport syndrome
RS368885310 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS368885365 LCA5 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS368885409 WNT4 Health Risk Conflicting classifications of pathogenicity Mullerian aplasia and hyperandrogenism, SERKAL syndrome
RS368885714 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS368886216 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 6
RS368886383 KIF1C Health Risk Conflicting classifications of pathogenicity Spastic ataxia 2, Hereditary spastic paraplegia
RS368886623 CACNA2D4 Health Risk Conflicting classifications of pathogenicity Retinal cone dystrophy 4, CACNA2D4-related disorder
RS368886943 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS368887417 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS368887584 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS368888118 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Cardiovascular phenotype
RS368888340 MME Health Risk Pathogenic —
RS368889070 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS368889231 ASXL1 Health Risk Conflicting classifications of pathogenicity —
RS368889621 CAD Health Risk Conflicting classifications of pathogenicity —
RS368890059 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS368891722 COQ2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Coenzyme Q10 deficiency
RS368892129 ZFHX2 Health Risk Conflicting classifications of pathogenicity —
RS368892932 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS368894487 DVL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS368896579 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS368897143 KDM4B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS368897676 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Autoinflammatory syndrome
RS368898285 LONP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS368899357 MAN2B1 Health Risk Pathogenic/Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS368900406 MPV17;TRIM54;UCN Health Risk Conflicting classifications of pathogenicity MPV17-related mitochondrial DNA maintenance defect, Charcot-Marie-Tooth disease
RS368900861 COL4A1 Health Risk Conflicting classifications of pathogenicity Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies
RS368902481 COL18A1 Health Risk Conflicting classifications of pathogenicity Knobloch syndrome 1, Knobloch syndrome 1
RS368903999 KIDINS220 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KIDINS220-related disorder
RS368904034 PLEC Health Risk Likely pathogenic Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS368904895 GALK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, GALK1-related disorder
RS368905186 KRT6C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS368905417 POLR3A Health Risk Pathogenic/Likely pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome, Wiedemann-Rautenstrauch-like progeroid syndrome
RS368905821 GCLC Health Risk Conflicting classifications of pathogenicity Gamma-glutamylcysteine synthetase deficiency, Gamma-glutamylcysteine synthetase deficiency
RS368906199 SCARB2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Inborn genetic diseases
RS368907353 TCTN1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS368907623 TTC21B Health Risk Likely pathogenic Nephronophthisis, Jeune thoracic dystrophy
RS368907927 SLC12A3 Health Risk Pathogenic —
RS368908107 ATP13A2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome
RS368908778 SZT2 Health Risk Pathogenic —
RS368908933 PMP22 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
RS368909134 MVK Health Risk Conflicting classifications of pathogenicity Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria
RS368909156 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS368909569 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS368910346 NECTIN1 Health Risk Conflicting classifications of pathogenicity Cleft lip/palate-ectodermal dysplasia syndrome, Cleft lip/palate-ectodermal dysplasia syndrome
RS368910470 RHO Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 1, Retinitis pigmentosa
RS368911815 NARS2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 24, Combined oxidative phosphorylation defect type 24
RS368912483 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS368912930 SIX6 Health Risk Conflicting classifications of pathogenicity Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome
RS368912987 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS368913305 MED12 Health Risk Conflicting classifications of pathogenicity X-linked intellectual disability with marfanoid habitus, FG syndrome 1
RS368913905 NPHS1 Health Risk Conflicting classifications of pathogenicity Proteinuria, Finnish congenital nephrotic syndrome
RS368914555 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS368915047 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS368915464 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group I, Fanconi anemia
RS368915509 MITF Health Risk Conflicting classifications of pathogenicity Waardenburg syndrome type 2A, Tietz syndrome
RS368917354 ATP7A Health Risk Conflicting classifications of pathogenicity X-linked distal spinal muscular atrophy type 3, Cutis laxa
RS368918146 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS368918847 COX10 Health Risk Conflicting classifications of pathogenicity —
RS368919638 CHD7 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome
RS368921201 ANKRD26 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 2, Thrombocytopenia 2
RS368921501 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS368922820 ADAMTSL2 Health Risk Conflicting classifications of pathogenicity Geleophysic dysplasia 1, Geleophysic dysplasia 1
RS368922836 MMP13 Health Risk Likely pathogenic Lung cancer, Lung cancer
RS368923127 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS368923696 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS368924297 ATP6V0A2 Health Risk Pathogenic ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation
RS368924655 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS368924997 SLC52A2 Health Risk Pathogenic/Likely pathogenic Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2
RS368927897 JAK2 Health Risk Conflicting classifications of pathogenicity —
RS368928190 WWOX Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy
RS368928783 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS368928992 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS368928996 OCA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS368931075 SPTA1 Health Risk Pathogenic/Likely pathogenic —
RS368931174 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS368931546 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS368932132 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS368932156 COLQ Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 5, Congenital myasthenic syndrome
RS368932301 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS368932742 CEP250 Health Risk Pathogenic —
RS368932767 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS368933340 WDPCP Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, WDPCP-related disorder
RS368933697 PLCG2 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3
RS368933798 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
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