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
RS2082049708 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2082051355 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS2082051467 COQ8B Health Risk Pathogenic Nephrotic syndrome, type 9
RS2082052550 MLH1 Health Risk Pathogenic Lynch-like syndrome, Lynch-like syndrome
RS2082057042 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2082061881 LAMA3 Health Risk Pathogenic/Likely pathogenic Epidermolysis bullosa, junctional 2A
RS2082083331 TCF4 Health Risk Pathogenic —
RS2082084610 TTN Health Risk Likely pathogenic TTN-related disorder, Dilated cardiomyopathy 1G
RS2082085635 TCF4 Health Risk Pathogenic —
RS2082092886 COQ8B Health Risk Likely pathogenic Nephrotic syndrome, type 9
RS2082112216 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2082115419 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2082120435 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2082124375 ANK3 Health Risk Pathogenic —
RS2082128828 STAT3 Health Risk Pathogenic STAT3 gain of function, Hyper-IgE recurrent infection syndrome 1
RS2082153181 KARS1 Health Risk Pathogenic LEUKOENCEPHALOPATHY, PROGRESSIVE
RS2082158844 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2082170216 COQ8B Health Risk Pathogenic Nephrotic syndrome, type 9
RS2082179831 LAMA3 Health Risk Pathogenic —
RS2082180462 LAMA3 Health Risk Pathogenic/Likely pathogenic Epidermolysis bullosa, junctional 2A
RS2082191056 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2082192813 TCF4 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS2082207948 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2082208014 KARS1 Health Risk Pathogenic —
RS2082208208 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2082209411 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2082212783 SPTB Health Risk Likely pathogenic —
RS2082227467 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2082232988 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 1
RS2082233410 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2082233689 KCNQ2 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, KCNQ2-related disorder
RS2082233766 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2082235501 KCNQ2 Health Risk Pathogenic Seizures, benign familial neonatal
RS2082240394 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2082253437 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2082253736 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Duchenne muscular dystrophy
RS2082254429 DMD Health Risk Likely pathogenic Becker muscular dystrophy, Duchenne muscular dystrophy
RS2082258116 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2082260036 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2082260996 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2082272257 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2082272406 SPG11 Health Risk Pathogenic Inborn genetic diseases, Hereditary spastic paraplegia 11
RS2082273335 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2082282118 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2082297073 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2082298022 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2082301397 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2082302853 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2082303743 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2082304563 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2082305146 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2082305577 HYDIN Health Risk Likely pathogenic Primary ciliary dyskinesia 5, Primary ciliary dyskinesia 5
RS2082307406 ARMC5 Health Risk Pathogenic —
RS2082308153 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2082308925 SPTB Health Risk Pathogenic —
RS2082309297 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Gastric cancer
RS2082310429 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2082322839 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS2082328931 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2082333064 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2082338123 ARMC5 Health Risk Likely pathogenic ACTH-independent macronodular adrenal hyperplasia 2, ACTH-independent macronodular adrenal hyperplasia 2
RS2082348062 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2082362479 EEF1A2 Health Risk Pathogenic/Likely pathogenic EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy, Intellectual disability
RS2082366378 EEF1A2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 33
RS2082366618 EEF1A2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2082373823 ANK3 Health Risk Pathogenic Intellectual disability-hypotonia-spasticity-sleep disorder syndrome, Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
RS2082374257 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2082374687 SPG11 Health Risk Likely pathogenic See cases, Hereditary spastic paraplegia 11
RS2082375273 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2082375533 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2082381612 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2082382004 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2082382534 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2082383767 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2082385904 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2082389962 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2082390512 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2082400132 TMEM126B Health Risk Pathogenic —
RS2082401685 SPG11 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2082406987 LAMA3 Health Risk Likely pathogenic —
RS2082409766 EEF1A2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 33
RS2082414008 EEF1A2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 33
RS2082414178 EEF1A2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 33
RS2082414661 EEF1A2 Health Risk Likely pathogenic —
RS2082415487 TPK1 Health Risk Likely pathogenic —
RS2082424804 EEF1A2 Health Risk Conflicting classifications of pathogenicity EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy, Developmental and epileptic encephalopathy
RS2082424831 EEF1A2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 33
RS2082439915 GPHN Health Risk Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Hepatocellular carcinoma
RS2082448894 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2082449528 PCDH15 Health Risk Pathogenic —
RS2082450607 SPG11 Health Risk Pathogenic —
RS2082452692 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2082452725 MYH10 Health Risk Likely pathogenic —
RS2082470151 SPG11 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis type 5
RS2082478614 TTN Health Risk Likely pathogenic Early-onset myopathy with fatal cardiomyopathy, Dilated cardiomyopathy 1G
RS2082503070 SPG11 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia
RS2082517369 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2082518811 ABCD4 Health Risk Likely pathogenic Methylmalonic acidemia with homocystinuria, type cblJ
RS2082520628 TMEM126A Health Risk Pathogenic —
RS2082522248 MLH1 Health Risk Pathogenic Lynch-like syndrome, Hereditary cancer-predisposing syndrome
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