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
RS2081162085 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2081163988 ARID1A Health Risk Conflicting classifications of pathogenicity —
RS2081169212 ARID1A Health Risk Pathogenic Intellectual disability, autosomal dominant 14
RS2081170615 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2081171469 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2081171632 ARID1A Health Risk Pathogenic Colorectal cancer, Colorectal cancer
RS2081172419 ARID1A Health Risk Conflicting classifications of pathogenicity ARID1A-related disorder, ARID1A-related disorder
RS2081173076 MLH1 Health Risk Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2081174839 ARID1A Health Risk Likely pathogenic Intellectual disability, autosomal dominant 14
RS2081174999 ARID1A Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2081175768 ARID1A Health Risk Conflicting classifications of pathogenicity —
RS2081179434 LAMA3 Health Risk Pathogenic —
RS2081186625 KCNQ2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 7
RS2081187047 KCNQ2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2081187692 KCNQ2 Health Risk Likely pathogenic Early-infantile DEE, Developmental and epileptic encephalopathy
RS2081187965 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2081188385 KCNQ2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 1
RS2081189736 KCNQ2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 7
RS2081190344 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2081190512 KCNQ2 Health Risk Pathogenic Intellectual disability, Early-infantile DEE
RS2081191454 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 7
RS2081191595 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2081192615 KCNQ2 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS2081198536 MCM3AP Health Risk Pathogenic —
RS2081272792 MCM3AP Health Risk Pathogenic —
RS2081272915 MCM3AP Health Risk Pathogenic —
RS2081287195 STAT3 Health Risk Likely pathogenic STAT3 gain of function, Hyper-IgE recurrent infection syndrome 1
RS2081288410 STAT3 Health Risk Likely pathogenic Hyper-IgE recurrent infection syndrome 1, autosomal dominant
RS2081300268 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2081303007 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2081303434 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2081308163 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2081312339 ATM Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2081312935 MCM3AP Health Risk Pathogenic —
RS2081314537 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2081339145 IFT122 Health Risk Pathogenic Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS2081358317 KCNQ2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2081358611 KCNQ2 Health Risk Pathogenic KCNQ2-related disorder, Complex neurodevelopmental disorder
RS2081358991 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2081359429 KCNQ2 Health Risk Pathogenic —
RS2081360507 PIGV Health Risk Conflicting classifications of pathogenicity —
RS2081362775 KCNQ2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 7
RS2081363302 KCNQ2 Health Risk Likely pathogenic Seizures, benign familial neonatal
RS2081363375 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2081363570 KCNQ2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS2081369871 MCM3AP Health Risk Pathogenic —
RS2081377258 KCNQ2 Health Risk Pathogenic Seizures, benign familial neonatal
RS2081377457 KCNQ2 Health Risk Likely pathogenic —
RS2081378361 KCNQ2 Health Risk Likely pathogenic —
RS2081378550 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2081381578 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2081381650 GSS Health Risk Pathogenic/Likely pathogenic Glutathione synthetase deficiency with 5-oxoprolinuria, Glutathione synthetase deficiency without 5-oxoprolinuria
RS2081385130 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2081389278 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2081390223 MCM3AP Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS2081397580 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2081400664 GSS Health Risk Likely pathogenic Glutathione synthetase deficiency with 5-oxoprolinuria, Glutathione synthetase deficiency with 5-oxoprolinuria
RS2081413206 LTBP4 Health Risk Conflicting classifications of pathogenicity Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
RS2081426061 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS2081437856 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2081442073 KCNQ2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2081442293 KCNQ2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 7
RS2081454038 LTBP4 Health Risk Likely pathogenic Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
RS2081475505 MLH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2081485010 GSS Health Risk Likely pathogenic —
RS2081492603 GSS Health Risk Pathogenic Glutathione synthetase deficiency with 5-oxoprolinuria, Glutathione synthetase deficiency with 5-oxoprolinuria
RS2081519190 GSS Health Risk Conflicting classifications of pathogenicity Glutathione synthetase deficiency with 5-oxoprolinuria, Glutathione synthetase deficiency with 5-oxoprolinuria
RS2081520204 STAT3 Health Risk Likely pathogenic STAT3-related early-onset multisystem autoimmune disease, STAT3-related early-onset multisystem autoimmune disease
RS2081548277 STAT3 Health Risk Conflicting classifications of pathogenicity See cases, EBV-Positive Inflammatory Follicular Dendritic Cell Sarcoma
RS2081559622 LAMA3 Health Risk Pathogenic —
RS2081563738 UNC80 Health Risk Pathogenic Hypotonia, infantile
RS2081575204 ATM Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2081578007 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2081592972 LTBP4 Health Risk Likely pathogenic Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
RS2081593717 TLK2 Health Risk Pathogenic —
RS2081636353 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2081637337 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2081638052 LTBP4 Health Risk Pathogenic —
RS2081639925 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2081640268 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2081646501 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2081656681 ATM Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2081657007 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2081660483 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2081660777 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2081667850 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2081712040 STAT3 Health Risk Likely pathogenic STAT3-related early-onset multisystem autoimmune disease, STAT3-related early-onset multisystem autoimmune disease
RS2081714489 MLH1 Health Risk Likely pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2081811652 PRMT7 Health Risk Pathogenic —
RS2081828234 TRAIP Health Risk Pathogenic —
RS2081852478 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS2081878770 TTN Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS2081903545 STAT3 Health Risk Pathogenic Hyper-IgE recurrent infection syndrome 1, autosomal dominant
RS2081905517 STAT3 Health Risk Likely pathogenic Hyper-IgE recurrent infection syndrome 1, autosomal dominant
RS2081922847 MLH1 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Breast carcinoma
RS2081930857 MLH1 Health Risk Pathogenic Lynch-like syndrome, Lynch-like syndrome
RS2081940708 ROBO1 Health Risk Conflicting classifications of pathogenicity Pituitary stalk interruption syndrome, Pituitary hormone deficiency
RS2082011693 PRODH Health Risk Likely pathogenic Schizophrenia 4, Proline dehydrogenase deficiency
RS2082047976 HYDIN Health Risk Likely pathogenic —
RS2082048690 MLH1 Health Risk Pathogenic Lynch-like syndrome, Lynch-like syndrome
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