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
RS1592880489 PTS Health Risk Conflicting classifications of pathogenicity 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS1592882265 UBE3B Health Risk Pathogenic Oculocerebrofacial syndrome, Kaufman type
RS1592890905 MED13L Health Risk Likely pathogenic —
RS1592891007 MED13L Health Risk Pathogenic —
RS1592897526 HNF1A Health Risk Pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1592898255 HNF1A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1592913789 HPD Health Risk Likely pathogenic 6 conditions, 6 conditions
RS1592915896 MED13L Health Risk Pathogenic —
RS1592919048 MED13L Health Risk Pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Autism spectrum disorder
RS1592923871 MED13L Health Risk Likely pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS1592939069 MED13L Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1592940794 MED13L Health Risk Pathogenic/Likely pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS1592941857 MED13L Health Risk Pathogenic —
RS1592944816 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS1592945394 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS1592945607 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1592947508 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS1592947538 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1592947563 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1592947582 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS1592949408 PAH Health Risk Conflicting classifications of pathogenicity Phenylketonuria, Phenylketonuria
RS1592952179 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS1592952183 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1592953143 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1592953902 MED13L Health Risk Pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS1592954413 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS1592961381 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS1592972259 UBE3B Health Risk Likely pathogenic Oculocerebrofacial syndrome, Kaufman type
RS1592977444 SETD1B Health Risk Likely pathogenic Epilepsy, Epilepsy
RS1592978629 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1592978725 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS1592978760 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1592978816 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1592978901 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1592978950 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1592978986 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1592978992 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1592979013 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1592988488 SETD1B Health Risk Pathogenic —
RS1592991145 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS1592991176 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1592991184 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1592991196 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1592991220 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1592991243 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1592996077 MMAB Health Risk Likely pathogenic Methylmalonic aciduria, cblB type
RS1592997663 MMAB Health Risk Pathogenic Methylmalonic aciduria, cblB type
RS1592998207 MMAB Health Risk Likely pathogenic Methylmalonic aciduria, cblB type
RS1593005589 DDX54 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental delay, Seizure
RS1593008134 MMAB Health Risk Likely pathogenic Methylmalonic aciduria, cblB type
RS1593015642 MVK Health Risk Pathogenic/Likely pathogenic Hyperimmunoglobulin D with periodic fever, Hyperimmunoglobulin D with periodic fever
RS1593021917 MVK Health Risk Pathogenic Hyperimmunoglobulin D with periodic fever, Hyperimmunoglobulin D with periodic fever
RS1593023809 RPS26 Health Risk Likely pathogenic Anemia, Pure red-cell aplasia
RS1593026935 MVK Health Risk Likely pathogenic Hyperimmunoglobulin D with periodic fever, Hyperimmunoglobulin D with periodic fever
RS1593037878 RAD9B Health Risk Likely pathogenic Neural tube defect, Neural tube defect
RS1593039493 MED13L Health Risk Pathogenic —
RS1593054210 HNF1A Health Risk Pathogenic/Likely pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1593055101 ALX1 Health Risk Pathogenic Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome, Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome
RS1593058338 HNF1A Health Risk Likely pathogenic/Likely risk allele Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1593058831 HNF1A Health Risk Pathogenic —
RS1593058932 HNF1A Health Risk Pathogenic/Likely pathogenic Maturity-onset diabetes of the young, Monogenic diabetes
RS1593060859 HNF1A Health Risk Pathogenic Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young
RS1593060890 HNF1A Health Risk Pathogenic/Likely pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young type 3
RS1593060912 HNF1A Health Risk Pathogenic/Likely pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1593060966 HNF1A Health Risk Pathogenic/Likely pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1593070775 POLE Health Risk Pathogenic —
RS1593072345 POLE Health Risk Pathogenic —
RS1593073030 POLE Health Risk Pathogenic —
RS1593073279 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593076474 SYT1 Health Risk Likely pathogenic Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome, Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
RS1593076635 POLE Health Risk Likely pathogenic —
RS1593077420 POLE Health Risk Likely pathogenic —
RS1593077422 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Polymerase proofreading-related adenomatous polyposis
RS1593077673 POLE Health Risk Likely pathogenic —
RS1593078223 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593078531 POLE Health Risk Pathogenic —
RS1593079711 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, POLE-related disorder
RS1593080925 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593082154 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593082215 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593083585 RAD9B Health Risk Likely pathogenic Neural tube defect, Neural tube defect
RS1593086031 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593086474 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593087229 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593088347 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Intrauterine growth retardation
RS1593088395 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593090725 SOX5 Health Risk Pathogenic Lamb-Shaffer syndrome, Lamb-Shaffer syndrome
RS1593099111 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593107841 NCOR2 Health Risk Likely pathogenic Multiple myeloma, Multiple myeloma
RS1593114820 NR1H4 Health Risk Likely pathogenic Cholestasis, progressive familial intrahepatic
RS1593121484 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS1593121507 SACS Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS1593121924 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS1593123432 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS1593124372 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS1593125290 SACS Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS1593125341 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1593129673 SACS Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS1593133306 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS1593133395 SACS Health Risk Pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
« Prev 1 ... 1099 1100 1101 1102 1103 1104 1105 ... 4509 Next »

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

Get Started Free →