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
RS758897129 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS758899003 EXOSC3 Health Risk Pathogenic Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS758899480 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 25
RS758900656 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS758900778 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS758900811 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS758901980 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS758902805 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS758903488 OFD1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 10, Simpson-Golabi-Behmel syndrome type 2
RS758904079 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS758904216 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy
RS758904746 RFX5 Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency 3
RS758904926 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758905397 ARG1 Health Risk Likely pathogenic Arginase deficiency, Arginase deficiency
RS758907408 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS758908317 GABRD Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Idiopathic generalized epilepsy
RS758908522 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS758909185 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS758909222 FBXO38 Health Risk Conflicting classifications of pathogenicity Distal hereditary motor neuropathy type 2, Neuronopathy
RS758909394 DNAJC21 Health Risk Conflicting classifications of pathogenicity DNAJC21-related disorder, Bone marrow failure syndrome 3
RS758909445 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, CTNNA1-related disorder
RS758909916 IMPDH1 Health Risk Conflicting classifications of pathogenicity —
RS758911181 MYO18B Health Risk Likely pathogenic —
RS758911793 PROP1 Health Risk Conflicting classifications of pathogenicity Pituitary hormone deficiency, combined
RS758911910 PSTPIP1 Health Risk Conflicting classifications of pathogenicity Pyogenic arthritis-pyoderma gangrenosum-acne syndrome, Autoinflammatory syndrome
RS758912397 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS758912548 TUFM Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 4, Combined oxidative phosphorylation defect type 4
RS758913334 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS758914061 CNGB3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 3, Achromatopsia
RS758915068 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS758915436 HS6ST2 Health Risk Conflicting classifications of pathogenicity —
RS758915600 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS758917273 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS758917402 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS758918107 BCL11B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758918226 OTOF Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Sarcoma
RS758918583 PNPLA2 Health Risk Conflicting classifications of pathogenicity Neutral lipid storage myopathy, PNPLA2-related disorder
RS758919000 PKD1 Health Risk Conflicting classifications of pathogenicity PKD1-related disorder, Inborn genetic diseases
RS758919422 WASHC5 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome
RS758919943 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS758920536 SPAST Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hereditary spastic paraplegia 4
RS758920941 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS758921360 PCDH15 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1F, Retinal dystrophy
RS758921557 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS758921701 CLN6 Health Risk Likely pathogenic Ceroid lipofuscinosis, neuronal
RS758922011 WDR62 Health Risk Conflicting classifications of pathogenicity —
RS758922909 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS758923137 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS758923989 SUOX Health Risk Pathogenic/Likely pathogenic Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS758923998 SMARCE1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial meningioma
RS758924701 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS758924907 CACNA1A Health Risk Conflicting classifications of pathogenicity See cases, Inborn genetic diseases
RS758925580 RYR1 Health Risk Pathogenic RYR1-related disorder, Malignant hyperthermia
RS758926262 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS758927533 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS758927662 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS758928307 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS758932190 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS758933315 ACE Health Risk Pathogenic Renal tubular dysgenesis, Renal tubular dysgenesis
RS758934983 SELENON Health Risk Pathogenic/Likely pathogenic Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS758934998 ABCC2 Health Risk Pathogenic —
RS758935114 MED12 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, FG syndrome
RS758935249 BRAF Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS758936479 TGM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758936540 SIK1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 30
RS758936956 MCPH1 Health Risk Conflicting classifications of pathogenicity Microcephaly 1, primary
RS758937084 ANO10 Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10
RS758937794 PRPF8 Health Risk Conflicting classifications of pathogenicity —
RS758937799 TBCE Health Risk Pathogenic/Likely pathogenic Autosomal recessive Kenny-Caffey syndrome, Hypoparathyroidism-retardation-dysmorphism syndrome
RS758938066 HIBCH Health Risk Conflicting classifications of pathogenicity 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency
RS758938669 POU4F3 Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 15, Autosomal dominant nonsyndromic hearing loss 15
RS758940600 COL7A1 Health Risk Conflicting classifications of pathogenicity —
RS758941113 PUF60 Health Risk Pathogenic Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome, Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
RS758941378 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS758943543 COQ9 Health Risk Conflicting classifications of pathogenicity Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome, Inborn genetic diseases
RS758943884 PYGL Health Risk Pathogenic Glycogen storage disease, type VI
RS758944159 DYSF Health Risk Pathogenic/Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS758945260 EGFR Health Risk Conflicting classifications of pathogenicity Lung carcinoma, EGFR-related lung cancer
RS758945742 ATP6V0A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal renal tubular acidosis, Renal tubular acidosis
RS758946245 PCSK9 Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Cardiovascular phenotype
RS758946412 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS758947077 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1F, Usher syndrome type 1F
RS758947665 ANO3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758948589 CACNA1C Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS758948621 TMEM67 Health Risk Pathogenic COACH syndrome 1, Joubert syndrome 6
RS758950276 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS758950766 MED13L Health Risk Conflicting classifications of pathogenicity Dextro-looped transposition of the great arteries, Inborn genetic diseases
RS758951164 RHAG Health Risk Pathogenic Rh mod blood group phenotype, Rh mod blood group phenotype
RS758951363 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS758951614 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS758951947 INPP5E Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Joubert syndrome
RS758951998 MYH9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758952009 PRRT2 Health Risk Conflicting classifications of pathogenicity Episodic kinesigenic dyskinesia, Inborn genetic diseases
RS758952057 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS758953000 MFSD2A Health Risk Pathogenic Microcephaly 15, primary
RS758953085 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS758953502 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23
RS758953756 KRT16 Health Risk Conflicting classifications of pathogenicity Palmoplantar keratoderma, nonepidermolytic
RS758958162 SOX11 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism, Hypogonadotropic hypogonadism
RS758959174 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
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