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
RS762112247 INVS Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Infantile nephronophthisis
RS762113011 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS762113080 TTN Health Risk Conflicting classifications of pathogenicity —
RS762114240 TMEM67 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS762114560 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS762114570 SGCB Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS762115704 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS762115705 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS762115717 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Colorectal cancer
RS762116472 C19orf12 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Hereditary spastic paraplegia 43
RS762116864 FAM111A Health Risk Conflicting classifications of pathogenicity —
RS762116971 KIAA1549 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762117133 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS762117246 MYO7A Health Risk Pathogenic —
RS762118960 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS762121316 MYH2 Health Risk Pathogenic Myopathy, proximal
RS762121866 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS762121901 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Intellectual disability
RS762123073 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS762124005 ALMS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alstrom syndrome
RS762124334 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS762124698 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS762124832 COG7 Health Risk Conflicting classifications of pathogenicity COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation
RS762125383 EIF2AK3 Health Risk Pathogenic —
RS762125386 ATR Health Risk Conflicting classifications of pathogenicity —
RS762126547 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Decreased circulating carnitine concentration
RS762126771 KIF1A Health Risk Likely pathogenic Neuropathy, hereditary sensory
RS76212747 PAH Health Risk Pathogenic Hyperphenylalaninemia, Phenylketonuria
RS762127980 CIB2 Health Risk Pathogenic —
RS762128147 FANCI Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia
RS762128149 VLDLR Health Risk Conflicting classifications of pathogenicity Cerebellar ataxia, intellectual disability
RS762128685 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS762128995 ERCC6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762129503 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS762129530 ERBB3 Health Risk Likely pathogenic Lethal congenital contracture syndrome 2, Lethal congenital contracture syndrome 2
RS762129771 PINK1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
RS762129852 PCDH15 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1F, Usher syndrome type 1F
RS762130127 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS762130433 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Lethal tight skin contracture syndrome
RS762130930 KCNQ2 Health Risk Conflicting classifications of pathogenicity Seizures, benign familial neonatal
RS762131179 NGLY1 Health Risk Pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS762131185 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1B, Usher syndrome type 1B
RS762132169 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Inborn genetic diseases
RS762132704 POP1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS76213287 MYO5B Health Risk Conflicting classifications of pathogenicity Congenital microvillous atrophy, MYO5B-related disorder
RS762133513 PTCHD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762133521 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS762133567 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS762134618 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS762135470 CASP8 Health Risk Pathogenic Autoimmune lymphoproliferative syndrome type 2B, Autoimmune lymphoproliferative syndrome type 2B
RS762135558 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS762135776 PTPRT Health Risk Likely pathogenic Abnormal brain morphology, Abnormal brain morphology
RS762136167 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS762136199 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS762136953 GALT Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Glioma susceptibility 1
RS762137330 SLC26A2 Health Risk Pathogenic/Likely pathogenic Atelosteogenesis type II, Diastrophic dysplasia
RS762138120 GEMIN5 Health Risk Likely pathogenic GEMIN5-related disorder, GEMIN5-related disorder
RS762138246 C2CD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Orofaciodigital syndrome type 14
RS762139262 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS762139460 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Benign familial hematuria
RS762140391 TJP2 Health Risk Conflicting classifications of pathogenicity Hypercholanemia, familial 1
RS762141272 ERCC2 Health Risk Pathogenic/Likely pathogenic Cerebrooculofacioskeletal syndrome 2, ERCC2-related disorder
RS762141482 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS762142487 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS762142684 TSEN54 Health Risk Pathogenic Pontocerebellar hypoplasia type 2A, Pontocerebellar hypoplasia type 5
RS762143074 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS762143326 CNNM2 Health Risk Pathogenic —
RS762143393 MYRF Health Risk Likely pathogenic Dextrocardia, Heart
RS762143630 LIPA Health Risk Pathogenic Wolman disease, Wolman disease
RS762144894 MYH14 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal dominant nonsyndromic hearing loss 4A
RS762145032 RMRP Health Risk Likely pathogenic Anauxetic dysplasia, Metaphyseal chondrodysplasia
RS762145450 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS762145853 PCYT1A Health Risk Likely pathogenic —
RS762146710 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Inborn genetic diseases
RS762146990 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Coffin-Siris syndrome
RS762147334 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS762147612 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS762147927 ACAN Health Risk Pathogenic —
RS762148512 LDLRAP1 Health Risk Likely pathogenic Hypercholesterolemia, familial
RS762148551 DOK7 Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10
RS762148677 SMARCA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762149243 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS762149472 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS762150575 ABCA4 Health Risk Pathogenic Stargardt disease, Retinal dystrophy
RS762150607 CERKL Health Risk Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS762151417 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS762151744 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762152042 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS762152128 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS762152367 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS762152420 TOR1A Health Risk Conflicting classifications of pathogenicity Dystonic disorder, Dystonic disorder
RS762152984 PDE6C Health Risk Conflicting classifications of pathogenicity Achromatopsia 5, Achromatopsia
RS762153545 CASQ2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS762153671 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762154042 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dilated cardiomyopathy 3B
RS762154546 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS762154638 ALDH18A1 Health Risk Likely pathogenic Autosomal recessive complex spastic paraplegia type 9B, Autosomal recessive complex spastic paraplegia type 9B
RS762154672 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS762154857 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS762154863 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
« Prev 1 ... 3391 3392 3393 3394 3395 3396 3397 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →