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
RS372299853 HCFC1 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX
RS372301151 SAMD9L Health Risk Conflicting classifications of pathogenicity Ataxia-pancytopenia syndrome, Ataxia-pancytopenia syndrome
RS372301689 ARHGAP31 Health Risk Conflicting classifications of pathogenicity ARHGAP31-related disorder, ARHGAP31-related disorder
RS372301724 HCFC1 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX
RS372302139 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia
RS372302484 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS372302682 PPA2 Health Risk Conflicting classifications of pathogenicity —
RS372303141 NPHS2 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 2
RS372303284 DNAAF1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS372303620 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS372304158 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS372304384 FLCN Health Risk Conflicting classifications of pathogenicity Familial spontaneous pneumothorax, Birt-Hogg-Dube syndrome
RS372305218 MYH3 Health Risk Conflicting classifications of pathogenicity Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1
RS372305287 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS372306607 RHOBTB2 Health Risk Conflicting classifications of pathogenicity RHOBTB2-related disorder, Developmental and epileptic encephalopathy
RS372306844 SLC7A9 Health Risk Pathogenic/Likely pathogenic Cystinuria, Cystinuria
RS372307320 ABCC8 Health Risk Pathogenic/Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS372307932 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS372308762 CNGB1 Health Risk Conflicting classifications of pathogenicity —
RS372308925 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, CREBBP-related disorder
RS372309164 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS372309415 LITAF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease type 1C
RS372311299 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Chromosome 2p16.3 deletion syndrome
RS372311430 CIT Health Risk Conflicting classifications of pathogenicity —
RS372312182 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS372312805 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS372313516 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS372313619 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency
RS372314209 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS372315353 ELN Health Risk Conflicting classifications of pathogenicity Supravalvar aortic stenosis, Cutis laxa
RS372316277 ARSL Health Risk Likely pathogenic Chondrodysplasia punctata, brachytelephalangic
RS372316501 TONSL Health Risk Conflicting classifications of pathogenicity TONSL-related disorder, Inborn genetic diseases
RS372316981 SMAD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Generalized juvenile polyposis/juvenile polyposis coli
RS372317366 TBC1D24 Health Risk Conflicting classifications of pathogenicity Familial infantile myoclonic epilepsy, Developmental and epileptic encephalopathy
RS372318280 FOXRED1 Health Risk Conflicting classifications of pathogenicity —
RS372318389 TP63 Health Risk Conflicting classifications of pathogenicity Ectrodactyly, ectodermal dysplasia
RS372318754 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS372318763 CSF3R Health Risk Conflicting classifications of pathogenicity Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Inborn genetic diseases
RS372318863 EXOSC9 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia, type 1D
RS372319066 TECPR2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 49, Hereditary spastic paraplegia
RS372319281 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS372319442 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS372319750 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS372320153 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS372320172 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS372320290 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS372320539 COL9A1 Health Risk Conflicting classifications of pathogenicity Congenital heart disease, Inborn genetic diseases
RS372320901 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS372321135 CYP1B1 Health Risk Conflicting classifications of pathogenicity Congenital glaucoma, Inborn genetic diseases
RS372321167 HSPG2 Health Risk Conflicting classifications of pathogenicity —
RS372321643 MTTP Health Risk Pathogenic/Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS372321790 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome
RS372322137 XDH Health Risk Conflicting classifications of pathogenicity Hereditary xanthinuria type 1, Xanthinuria type II
RS372323929 PCARE Health Risk Conflicting classifications of pathogenicity —
RS372324595 OTOF Health Risk Pathogenic —
RS372325290 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS372326047 UGT1A1 Health Risk Pathogenic —
RS372326315 ABCA12 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosis of skin, ABCA12-related disorder
RS372327659 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Melanoma
RS372328307 KCNJ5 Health Risk Conflicting classifications of pathogenicity Familial hyperaldosteronism type III, Familial hyperaldosteronism type III
RS372328602 RANBP2 Health Risk Conflicting classifications of pathogenicity —
RS372328960 ITGA7 Health Risk Pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS372329290 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS372329498 COL3A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS372329880 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS372331472 SMARCAL1 Health Risk Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS372331627 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Arrhythmogenic right ventricular cardiomyopathy
RS372331667 TNFRSF13C Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS372332465 CANT1 Health Risk Pathogenic —
RS372333024 INF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS372333417 TJP2 Health Risk Conflicting classifications of pathogenicity TJP2-related disorder, TJP2-related disorder
RS372337472 KIF22 Health Risk Conflicting classifications of pathogenicity —
RS372337556 F8 Health Risk Pathogenic —
RS372337739 TSFM Health Risk Pathogenic/Likely pathogenic Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
RS372337877 RAI1 Health Risk Conflicting classifications of pathogenicity Smith-Magenis syndrome, RAI1-related disorder
RS372337934 ZFHX3 Health Risk Conflicting classifications of pathogenicity —
RS372338345 KIZ Health Risk Conflicting classifications of pathogenicity —
RS372338418 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS372338710 PYGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type VI
RS372338837 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS372338933 KIF7 Health Risk Pathogenic Acrocallosal syndrome, Acrocallosal syndrome
RS372340726 GLIS3 Health Risk Conflicting classifications of pathogenicity Neonatal diabetes mellitus with congenital hypothyroidism, GLIS3-related disorder
RS372340900 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS372341254 LRPPRC Health Risk Pathogenic —
RS372341303 GLI2 Health Risk Conflicting classifications of pathogenicity Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9
RS372341590 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS372341850 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS372342635 PNPLA2 Health Risk Conflicting classifications of pathogenicity Neutral lipid storage myopathy, PNPLA2-related disorder
RS372343882 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS372344160 MED12 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, FG syndrome
RS372344870 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Autosomal dominant nonsyndromic hearing loss 11
RS372345029 SLC26A2 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IB
RS372345940 C6 Health Risk Pathogenic Complement component 6 deficiency, Complement component 6 deficiency
RS372346014 MPDZ Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hydrocephalus
RS372346318 TRIM31 Health Risk Conflicting classifications of pathogenicity —
RS372346466 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS372346866 PDE6A Health Risk Likely pathogenic —
RS372346898 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS372347027 USH2A Health Risk Pathogenic Usher syndrome, Retinitis pigmentosa 39
RS372347288 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
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