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
RS2135977542 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135977645 POLE Health Risk Likely pathogenic —
RS2135977760 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135978895 POLE Health Risk Likely pathogenic —
RS2135979111 POLE Health Risk Pathogenic —
RS2135979533 POLE Health Risk Pathogenic —
RS2135984840 TRIM8 Health Risk Pathogenic/Likely pathogenic Seizure, Focal segmental glomerulosclerosis
RS2135984894 TRIM8 Health Risk Pathogenic Focal segmental glomerulosclerosis and neurodevelopmental syndrome, Focal segmental glomerulosclerosis and neurodevelopmental syndrome
RS2135984949 TRIM8 Health Risk Pathogenic/Likely pathogenic Focal segmental glomerulosclerosis and neurodevelopmental syndrome, Neurodevelopmental delay
RS2135984958 TRIM8 Health Risk Pathogenic Neurodevelopmental delay, Focal segmental glomerulosclerosis
RS2135985076 TRIM8 Health Risk Pathogenic/Likely pathogenic Focal segmental glomerulosclerosis and neurodevelopmental syndrome, Seizure
RS2135985089 TRIM8 Health Risk Pathogenic Focal segmental glomerulosclerosis and neurodevelopmental syndrome, Focal segmental glomerulosclerosis and neurodevelopmental syndrome
RS2135985150 TRIM8 Health Risk Pathogenic/Likely pathogenic Focal segmental glomerulosclerosis and neurodevelopmental syndrome, Seizure
RS2135990079 POLE Health Risk Likely pathogenic —
RS2135990084 POLE Health Risk Likely pathogenic —
RS2135990149 POLE Health Risk Pathogenic —
RS2135990721 POLE Health Risk Pathogenic —
RS2135990843 MYBPC1 Health Risk Likely pathogenic Abnormality of the musculature, Abnormality of the musculature
RS2135992770 POLE Health Risk Pathogenic —
RS2135994295 POLE Health Risk Pathogenic —
RS2135995131 PFKM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type VII
RS2135995555 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS2135997131 POLE Health Risk Pathogenic —
RS2135997137 POLE Health Risk Likely pathogenic —
RS2135999616 SLC17A8 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 25, Autosomal dominant nonsyndromic hearing loss 25
RS2135999822 ITGA7 Health Risk Pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS2136000931 POLE Health Risk Pathogenic —
RS2136001004 POLE Health Risk Likely pathogenic —
RS2136006298 TCTN1 Health Risk Likely pathogenic Joubert syndrome 13, Joubert syndrome 13
RS2136007588 SYT1 Health Risk Pathogenic/Likely pathogenic Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome, Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
RS2136007608 SYT1 Health Risk Pathogenic/Likely pathogenic Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome, Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
RS2136008692 POLE Health Risk Pathogenic —
RS2136009658 PFKM Health Risk Likely pathogenic —
RS2136010908 POLE Health Risk Likely pathogenic —
RS2136011029 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2136011317 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2136011926 POLE Health Risk Pathogenic —
RS2136012123 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2136013780 POLE Health Risk Pathogenic —
RS2136013815 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2136015352 POLE Health Risk Likely pathogenic —
RS2136015354 POLE Health Risk Likely pathogenic —
RS2136015541 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2136015595 POLE Health Risk Likely pathogenic —
RS2136016053 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2136016515 POLE Health Risk Likely pathogenic —
RS2136017191 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2136017305 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2136017422 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2136018060 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2136018731 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2136018890 POLE Health Risk Likely pathogenic —
RS2136019667 PFKM Health Risk Pathogenic Glycogen storage disease, type VII
RS2136020407 PFKM Health Risk Pathogenic Glycogen storage disease, type VII
RS2136020496 ATM Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Ataxia-telangiectasia syndrome
RS2136020791 POLE Health Risk Conflicting classifications of pathogenicity —
RS2136020836 SOX5 Health Risk Pathogenic —
RS2136025217 ITGA7 Health Risk Likely pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS2136027025 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2136027740 POLE Health Risk Pathogenic —
RS2136028810 POLE Health Risk Pathogenic —
RS2136029186 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2136029683 POLE Health Risk Pathogenic —
RS2136029710 POLE Health Risk Pathogenic —
RS2136029824 CHEK1 Health Risk Pathogenic Oocyte/zygote/embryo maturation arrest 21, Oocyte/zygote/embryo maturation arrest 21
RS2136030901 UBE3B Health Risk Pathogenic Oculocerebrofacial syndrome, Kaufman type
RS2136034222 POLE Health Risk Pathogenic —
RS2136034735 POLE Health Risk Pathogenic —
RS2136044173 STAT2 Health Risk Pathogenic Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
RS2136045792 TCTN1 Health Risk Likely pathogenic TCTN1-related disorder, TCTN1-related disorder
RS2136045991 ITGA7 Health Risk Likely pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS2136046122 SOX5 Health Risk Pathogenic Lamb-Shaffer syndrome, Lamb-Shaffer syndrome
RS2136047144 PHF21A Health Risk Likely pathogenic Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures
RS2136047948 SOX5 Health Risk Pathogenic See cases, Lamb-Shaffer syndrome
RS2136048818 FANCC Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2136049056 PFKM Health Risk Pathogenic Glycogen storage disease, type VII
RS2136049324 FANCC Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group C
RS2136049616 PCDH15 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1D
RS2136049646 FANCC Health Risk Pathogenic Fanconi anemia complementation group C, Fanconi anemia complementation group C
RS2136050284 ATP2B1 Health Risk Likely pathogenic Intellectual developmental disorder, autosomal dominant 66
RS2136051965 POLE Health Risk Pathogenic Facial dysmorphism-immunodeficiency-livedo-short stature syndrome, Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
RS2136052256 STAT2 Health Risk Pathogenic Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
RS2136052278 STAT2 Health Risk Likely pathogenic Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
RS2136053029 STAT2 Health Risk Pathogenic Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
RS2136056220 NDUFA12 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 23
RS2136056222 ITGA7 Health Risk Pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS2136056550 NUP107 Health Risk Likely pathogenic Nephrotic syndrome, type 11
RS2136060057 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2136061889 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2136063413 UBE3B Health Risk Pathogenic Oculocerebrofacial syndrome, Kaufman type
RS2136066523 UBE3B Health Risk Pathogenic Oculocerebrofacial syndrome, Kaufman type
RS2136067033 UBE3B Health Risk Pathogenic Oculocerebrofacial syndrome, Kaufman type
RS2136069811 NDUFA12 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 23
RS2136072590 ITGA7 Health Risk Likely pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS2136073462 ITGA7 Health Risk Pathogenic/Likely pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS2136074154 PEX5 Health Risk Pathogenic Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS2136075415 PEX5 Health Risk Pathogenic Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS2136075449 NDUFA12 Health Risk Pathogenic —
RS2136075793 SOX5 Health Risk Pathogenic Lamb-Shaffer syndrome, Lamb-Shaffer syndrome
RS2136077497 COL13A1 Health Risk Pathogenic Congenital myasthenic syndrome 19, Congenital myasthenic syndrome 19
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