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
RS555058443 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 2, Transient Neonatal Diabetes
RS555068245 CYP27B1 Health Risk Pathogenic/Likely pathogenic Vitamin D-dependent rickets, type 1
RS555068280 FBN2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Congenital contractural arachnodactyly
RS555068328 OTOG Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B
RS555070042 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, 11 conditions
RS555070980 PCARE Health Risk Pathogenic —
RS555082393 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Thyroid cancer
RS555083063 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS555092681 KIAA1549 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 86, Inborn genetic diseases
RS555093151 YARS2 Health Risk Conflicting classifications of pathogenicity —
RS555093382 TECTA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS555093522 FREM2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS555106014 LRP5 Health Risk Conflicting classifications of pathogenicity LRP5-related disorder, 6 conditions
RS555109138 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, CREBBP-related disorder
RS555111281 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS555112175 PRPH2 Health Risk Conflicting classifications of pathogenicity Pigmentary retinal dystrophy, Adult-onset foveomacular vitelliform dystrophy
RS555126484 SPG21 Health Risk Pathogenic/Likely pathogenic Mast syndrome, Hereditary spastic paraplegia
RS555127846 FRA10AC1 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with growth retardation, dysmorphic facies
RS555133070 TH Health Risk Conflicting classifications of pathogenicity Autosomal recessive DOPA responsive dystonia, Inborn genetic diseases
RS555143841 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Alport syndrome
RS555145190 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS555151297 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS555164150 CFAP410 Health Risk Pathogenic Axial spondylometaphyseal dysplasia, Retinal dystrophy
RS555169864 LRBA Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to LRBA deficiency, Inborn genetic diseases
RS555171534 COQ8A Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS555179389 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS555181489 GUCA1B Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS555187617 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B
RS555209664 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS555211505 NR2E3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 37, Enhanced S-cone syndrome
RS555217187 TRIM32 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Sarcotubular myopathy
RS555219189 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS555235745 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS555242193 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease
RS555250264 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS555255264 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, Inborn genetic diseases
RS555256402 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS555261601 TCF20 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS555280530 POLG Health Risk Conflicting classifications of pathogenicity POLG-related disorder, Progressive sclerosing poliodystrophy
RS555285206 SIX3 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 2, Schizencephaly
RS555293849 VPS13D Health Risk Conflicting classifications of pathogenicity —
RS555293970 MSX2 Health Risk Conflicting classifications of pathogenicity Cranium bifidum occultum, Inborn genetic diseases
RS555296963 KNL1 Health Risk Conflicting classifications of pathogenicity Sarcoma, Thymoma
RS555312732 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS555315887 CABP4 Health Risk Conflicting classifications of pathogenicity Cone-rod synaptic disorder, congenital nonprogressive
RS555316512 TG Health Risk Pathogenic —
RS555317258 PRF1 Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 2, Aplastic anemia
RS555320255 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Erythrokeratodermia variabilis et progressiva 6
RS555326744 NBAS Health Risk Conflicting classifications of pathogenicity Infantile liver failure syndrome 2, Infantile liver failure syndrome 2
RS555330165 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS555332902 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS555336070 GNPTAB Health Risk Conflicting classifications of pathogenicity Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS555339053 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS555343068 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS555347387 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS555348704 CHRNB1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 2A
RS555349004 DZIP1L Health Risk Pathogenic Polycystic kidney disease 5, Polycystic kidney disease 5
RS555349616 KAT6A Health Risk Conflicting classifications of pathogenicity —
RS555350937 PEPD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS555359738 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS555361360 AR Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS555362865 TCIRG1 Health Risk Conflicting classifications of pathogenicity —
RS555363112 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS555367432 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ovarian cancer
RS555371409 APC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, APC2-related disorder
RS555377928 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS555380931 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS555382397 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS555383226 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS555386610 KCNJ2 Health Risk Conflicting classifications of pathogenicity Short QT syndrome type 3, Atrial fibrillation
RS555387669 ARHGAP11A Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS555388438 ASS1 Health Risk Likely pathogenic Citrullinemia type I, Citrullinemia
RS555392324 NFASC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS555404867 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS555404939 ECHS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS555405542 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS555406717 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS555406841 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS555411841 COQ2 Health Risk Conflicting classifications of pathogenicity COQ2-related disorder, COQ2-related disorder
RS555421470 KMT2C Health Risk Conflicting classifications of pathogenicity —
RS555421894 KIAA0586 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS555430482 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1
RS555444131 PDZD7 Health Risk Conflicting classifications of pathogenicity PDZD7-related disorder, Retinal dystrophy
RS555445835 NEB Health Risk Pathogenic Nemaline myopathy, Nemaline myopathy 2
RS555449842 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS555450276 GOLGA6L6 Health Risk Conflicting classifications of pathogenicity —
RS555453763 TMC6 Health Risk Conflicting classifications of pathogenicity Epidermodysplasia verruciformis, Inborn genetic diseases
RS555460132 CAMK2B Health Risk Conflicting classifications of pathogenicity Hereditary ataxia, Hereditary ataxia
RS555466095 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Febrile seizures
RS555467754 EP300 Health Risk Conflicting classifications of pathogenicity —
RS555470100 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS555476312 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS555480773 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group I
RS555481241 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS555499592 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS555514820 SGCB Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E, Inborn genetic diseases
RS555516831 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS555519520 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS555520875 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, Familial dysautonomia
RS555522870 TBX1 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, Velocardiofacial syndrome
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