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
RS764440861 ANO10 Health Risk Pathogenic/Likely pathogenic Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10
RS764441073 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS764442764 LINS1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 27
RS764443272 IMPG2 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS764443382 RAG1 Health Risk Pathogenic/Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS764443534 DCTN1 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS764444302 KCNQ2 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS764444350 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS764444847 NALCN Health Risk Conflicting classifications of pathogenicity —
RS764445929 SPEN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764446683 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS764446835 LZTR1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS764447736 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS764448554 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS764448697 IGF1R Health Risk Conflicting classifications of pathogenicity Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
RS764448821 GALE Health Risk Conflicting classifications of pathogenicity UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency
RS764448893 TGM5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764449224 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS764450149 COL11A2 Health Risk Pathogenic/Likely pathogenic —
RS764451365 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Benign familial hematuria
RS764452839 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS764453012 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS764453448 NT5C2 Health Risk Pathogenic Hereditary spastic paraplegia 45, Hereditary spastic paraplegia 45
RS764455004 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS764456030 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS764457342 CYFIP2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 65
RS764457707 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS764457781 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS764458059 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS764458412 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS764458682 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Inborn genetic diseases
RS764459387 TUFM Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 4, Combined oxidative phosphorylation defect type 4
RS764459544 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy
RS764459989 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS764460003 SPTLC1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 1, Inborn genetic diseases
RS764460073 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764462476 DEPDC5 Health Risk Conflicting classifications of pathogenicity Familial focal epilepsy with variable foci, Inborn genetic diseases
RS764462802 POMT2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2N, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS764463609 ALAS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764463819 CLN6 Health Risk Pathogenic/Likely pathogenic Ceroid lipofuscinosis, neuronal
RS764464059 CEP164 Health Risk Likely pathogenic —
RS764465049 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Hematuria
RS764465139 AIP Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS764466442 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Generalized juvenile polyposis/juvenile polyposis coli
RS764466739 FECH Health Risk Pathogenic/Likely pathogenic Protoporphyria, erythropoietic
RS764467399 MICU1 Health Risk Likely pathogenic —
RS764467903 GIPC3 Health Risk Conflicting classifications of pathogenicity GIPC3-related disorder, GIPC3-related disorder
RS764468030 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS764468729 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS764469563 FOXC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764469579 HOGA1 Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS764469753 COL9A1 Health Risk Pathogenic —
RS764470052 ZNF469 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Cardiovascular phenotype
RS764470073 FYCO1 Health Risk Conflicting classifications of pathogenicity Cataract 18, Cataract 18
RS764470906 PHOX2B Health Risk Conflicting classifications of pathogenicity Congenital central hypoventilation, Neuroblastoma
RS764471983 ECEL1 Health Risk Likely pathogenic —
RS764472245 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS764472279 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS764472307 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS764473301 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS764473594 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS764474318 OTOF Health Risk Conflicting classifications of pathogenicity —
RS764474764 RAB28 Health Risk Pathogenic —
RS764476239 GRM6 Health Risk Pathogenic Congenital stationary night blindness 1B, Congenital stationary night blindness 1B
RS764476302 SYNE4 Health Risk Pathogenic —
RS764476639 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS764476944 STXBP2 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Inborn genetic diseases
RS764477334 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS764478054 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764478418 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS764478470 COL4A3 Health Risk Conflicting classifications of pathogenicity Benign familial hematuria, Autosomal dominant Alport syndrome
RS764478569 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS76447919 ACACB Health Risk Conflicting classifications of pathogenicity ACACB-related disorder, ACACB-related disorder
RS764479245 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 15
RS764479854 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, USH2A-related disorder
RS764480429 XPC Health Risk Likely pathogenic Xeroderma pigmentosum, group C
RS764481922 DCC Health Risk Pathogenic Mirror movements 1, Mirror movements 1
RS764482364 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Hematuria
RS764483419 LIG4 Health Risk Conflicting classifications of pathogenicity DNA ligase IV deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS764483792 DHX34 Health Risk Pathogenic Neurodevelopmental delay, Seizure
RS764485070 RAG2 Health Risk Pathogenic/Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS764485729 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot
RS764485892 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS764486532 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiac arrhythmia
RS764486868 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Li-Fraumeni syndrome 1
RS764487066 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS764487245 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 1, Type 2 collagenopathy
RS764487443 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS764487659 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS764487847 FUS Health Risk Likely pathogenic —
RS764488118 RELN Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS764488310 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS764488484 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer
RS764488677 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiac arrhythmia
RS764488809 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS764490603 DIAPH1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
RS764492632 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764493206 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS76449350 DNAH17 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764494474 COL4A4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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