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
RS376103455 F5 Health Risk Conflicting classifications of pathogenicity Factor V deficiency, Budd-Chiari syndrome
RS376103595 SI Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376103623 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS376103794 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome due to CREBBP mutations
RS376103979 C19orf12 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 43, Neurodegeneration with brain iron accumulation 4
RS376104371 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS376104463 NBAS Health Risk Conflicting classifications of pathogenicity —
RS376104748 STRC Health Risk Conflicting classifications of pathogenicity Rare genetic deafness, Autosomal dominant nonsyndromic hearing loss 16
RS376104770 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS376104832 OTOGL Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 84B, Autosomal recessive nonsyndromic hearing loss 84B
RS376106351 DYRK1A Health Risk Likely pathogenic Complex neurodevelopmental disorder, Complex neurodevelopmental disorder
RS376106590 TTC21B Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Nephronophthisis
RS376107245 CHST3 Health Risk Conflicting classifications of pathogenicity Spondyloepiphyseal dysplasia with congenital joint dislocations, CHST3-related disorder
RS376107921 CAPN3 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS376108629 TALDO1 Health Risk Likely pathogenic —
RS376109464 SUMF1 Health Risk Likely pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS376110719 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS376111170 FASN Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS376111412 ARSL Health Risk Conflicting classifications of pathogenicity Chondrodysplasia punctata, brachytelephalangic
RS376112375 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS376112577 UNC45A Health Risk Pathogenic Osteootohepatoenteric syndrome, Osteootohepatoenteric syndrome
RS376112899 IDH3B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS376112916 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex
RS376113629 SCN3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376113678 NBAS Health Risk Pathogenic Infantile liver failure syndrome 2, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
RS376113816 TNFRSF11A Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 7, Paget disease of bone 2
RS376114936 NR2E3 Health Risk Conflicting classifications of pathogenicity Enhanced S-cone syndrome, Retinitis pigmentosa
RS376116157 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS376116707 IFIH1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
RS3761169 PLCB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS376117319 OTOF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376117349 LIPC Health Risk Conflicting classifications of pathogenicity —
RS376117402 TTN Health Risk Conflicting classifications of pathogenicity —
RS376118603 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 1
RS376118760 DNAH5 Health Risk Likely pathogenic DNAH5-related disorder, Primary ciliary dyskinesia 3
RS376119113 DOCK7 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 23
RS376119570 MN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376119827 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS376121197 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS376121326 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Inborn genetic diseases
RS376122149 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, LOXHD1-related disorder
RS376122266 FREM2 Health Risk Pathogenic/Likely pathogenic Fraser syndrome 2, Fraser syndrome 2
RS376123010 JUP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS376123205 KIF1C Health Risk Conflicting classifications of pathogenicity Spastic ataxia 2, Hereditary spastic paraplegia
RS376123972 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS376124198 PDYN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376125033 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Hereditary spastic paraplegia
RS376126357 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS376126419 LRBA Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to LRBA deficiency, LRBA-related disorder
RS376126988 POMT1 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K, Walker-Warburg congenital muscular dystrophy
RS376128040 PSTPIP1 Health Risk Conflicting classifications of pathogenicity Pyogenic arthritis-pyoderma gangrenosum-acne syndrome, Autoinflammatory syndrome
RS376128262 DDX41 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, DDX41-related hematologic malignancy predisposition syndrome
RS376128790 ATP1A2 Health Risk Conflicting classifications of pathogenicity Familial hemiplegic migraine, Alternating hemiplegia of childhood 1
RS376128990 MMAB Health Risk Likely pathogenic Methylmalonic aciduria, cblB type
RS376129364 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS376129645 TMPRSS15 Health Risk Likely pathogenic Enterokinase deficiency, Enterokinase deficiency
RS376130330 ERF Health Risk Conflicting classifications of pathogenicity TWIST1-related craniosynostosis, TWIST1-related craniosynostosis
RS376133490 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Inborn genetic diseases
RS376133540 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS376133710 EVC2 Health Risk Pathogenic/Likely pathogenic Type IV short rib polydactyly syndrome, Curry-Hall syndrome
RS376133758 IMPG1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS376134488 PRKG1 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 8
RS376135657 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS376136046 CPAMD8 Health Risk Likely pathogenic Anterior segment dysgenesis 8, Anterior segment dysgenesis 8
RS376136801 CLCN7 Health Risk Conflicting classifications of pathogenicity Osteopetrosis, CLCN7-related disorder
RS376137502 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intervertebral disc disorder
RS376137910 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS376141942 SGCD Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2F, Inborn genetic diseases
RS376142052 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS376142053 ITPA Health Risk Pathogenic/Likely pathogenic Inosine triphosphatase deficiency, Developmental and epileptic encephalopathy
RS376142071 POLG2 Health Risk Conflicting classifications of pathogenicity —
RS376142095 PROKR2 Health Risk Conflicting classifications of pathogenicity HYPOGONADOTROPIC HYPOGONADISM 3 WITHOUT ANOSMIA, Hypogonadotropic hypogonadism 3 with or without anosmia
RS376142390 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS376143828 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS376143910 IL10RB Health Risk Conflicting classifications of pathogenicity Inflammatory bowel disease 25, Inborn genetic diseases
RS376144003 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS376144196 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS376145746 SCO1 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex IV deficiency
RS376147282 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS376147306 CASQ2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 2
RS376147435 LPIN2 Health Risk Conflicting classifications of pathogenicity Majeed syndrome, Majeed syndrome
RS376147620 PAX3 Health Risk Conflicting classifications of pathogenicity Waardenburg syndrome, Craniofacial-deafness-hand syndrome
RS376148458 OPHN1 Health Risk Conflicting classifications of pathogenicity —
RS376150217 PFKM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type VII
RS3761507 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Intellectual disability-hypotonic facies syndrome
RS376150952 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376151586 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS376152274 LRP5 Health Risk Pathogenic/Likely pathogenic —
RS376152742 NALCN Health Risk Pathogenic Inborn genetic diseases, Hypotonia
RS376153530 TSEN34 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 2C, Pontocerebellar hypoplasia type 2C
RS376154041 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS376154815 SNORA31 Health Risk risk factor Encephalopathy, acute
RS376155416 CLRN1 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 3, Retinitis pigmentosa 61
RS376155665 EPCAM Health Risk Pathogenic/Likely pathogenic Congenital diarrhea 5 with tufting enteropathy, Lynch syndrome 8
RS376158566 PCDH15 Health Risk Conflicting classifications of pathogenicity —
RS376159002 TGFB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Loeys-Dietz syndrome 4
RS376159787 NPRL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376159946 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS376161579 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376161880 ALG8 Health Risk Pathogenic/Likely pathogenic Polycystic liver disease 3 with or without kidney cysts, ALG8 congenital disorder of glycosylation
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