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
RS2134985434 EXT2 Health Risk Pathogenic Exostoses, multiple
RS2134985455 EXT2 Health Risk Pathogenic Exostoses, multiple
RS2134989336 MRE11 Health Risk Likely pathogenic Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder
RS2134991615 IL10RA Health Risk Pathogenic Inflammatory bowel disease 28, Inflammatory bowel disease 28
RS2134991780 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
RS2134993322 STX3 Health Risk Pathogenic Retinal dystrophy and microvillus inclusion disease, Retinal dystrophy and microvillus inclusion disease
RS2134994767 DYNC2H1 Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS2134999194 MRE11 Health Risk Likely pathogenic Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome
RS2134999584 MRE11 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2134999988 MRE11 Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1
RS2135004405 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2135004898 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2135005147 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135005331 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135005753 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135006691 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2135006985 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135010378 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2135011143 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2135014654 EXT2 Health Risk Pathogenic Exostoses, multiple
RS2135014852 EXT2 Health Risk Pathogenic Exostoses, multiple
RS2135014976 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2135015182 STX3 Health Risk Pathogenic Retinal dystrophy and microvillus inclusion disease, Retinal dystrophy and microvillus inclusion disease
RS2135015231 STX3 Health Risk Pathogenic Retinal dystrophy and microvillus inclusion disease, Retinal dystrophy and microvillus inclusion disease
RS2135015566 EXT2 Health Risk Likely pathogenic Exostoses, multiple
RS2135015765 EXT2 Health Risk Pathogenic Exostoses, multiple
RS2135015771 EXT2 Health Risk Likely pathogenic Seizures-scoliosis-macrocephaly syndrome, Seizures-scoliosis-macrocephaly syndrome
RS2135020224 EXT2 Health Risk Pathogenic Exostoses, multiple
RS2135020617 EXT2 Health Risk Pathogenic Exostoses, multiple
RS2135020654 EXT2 Health Risk Pathogenic Exostoses, multiple
RS2135020895 EXT2 Health Risk Pathogenic Exostoses, multiple
RS2135022283 PCDH15 Health Risk Likely pathogenic —
RS2135023557 MRE11 Health Risk Likely pathogenic Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder 1
RS2135024880 MRE11 Health Risk Pathogenic Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder 1
RS2135027384 COL27A1 Health Risk Likely pathogenic —
RS2135027632 PHF21A Health Risk Conflicting classifications of pathogenicity 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
RS2135029005 EXT2 Health Risk Pathogenic Exostoses, multiple
RS2135029007 EXT2 Health Risk Pathogenic Exostoses, multiple
RS2135031513 SF3B2 Health Risk Pathogenic Craniofacial microsomia 1, Craniofacial microsomia 1
RS2135033137 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135033602 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Gastric cancer
RS2135034894 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2135035080 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2135035121 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135035580 ATM Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2135038006 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2135038300 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2135038488 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135039016 CHRM1 Health Risk Likely pathogenic See cases, CHRM1-related neurodevelopmental disorder
RS2135039721 FZD4 Health Risk Pathogenic —
RS2135040070 FZD4 Health Risk Pathogenic —
RS2135040093 FZD4 Health Risk Pathogenic —
RS2135040135 FZD4 Health Risk Pathogenic —
RS2135040318 PAX6 Health Risk Pathogenic —
RS2135040415 FZD4 Health Risk Pathogenic —
RS2135040558 FZD4 Health Risk Likely pathogenic —
RS2135041449 FZD4 Health Risk Pathogenic —
RS2135041646 RBM20 Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS2135041940 FZD4 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2135045937 MRE11 Health Risk Likely pathogenic —
RS2135047165 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS2135047643 MRE11 Health Risk Likely pathogenic Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder 1
RS2135050138 RBM20 Health Risk Likely pathogenic Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS2135050168 TECTA Health Risk Pathogenic/Likely pathogenic Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21
RS2135050433 SF3B2 Health Risk Pathogenic Craniofacial microsomia 1, Craniofacial microsomia 1
RS2135051009 SF3B2 Health Risk Pathogenic Craniofacial microsomia 1, Craniofacial microsomia 1
RS2135051167 PAX6 Health Risk Pathogenic Irido-corneo-trabecular dysgenesis, Aniridia 1
RS2135055284 CFAP300 Health Risk Pathogenic Heterotaxy, Heterotaxy
RS2135060276 TECTA Health Risk Likely pathogenic Ear malformation, Ear malformation
RS2135073208 COL27A1 Health Risk Pathogenic —
RS2135073795 RBM20 Health Risk Pathogenic Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS2135075507 COL27A1 Health Risk Pathogenic —
RS2135078208 COL27A1 Health Risk Pathogenic —
RS2135078982 RBM20 Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS2135080796 COL27A1 Health Risk Likely pathogenic —
RS2135082088 TECTA Health Risk Pathogenic —
RS2135083222 COL27A1 Health Risk Pathogenic —
RS2135086294 MRE11 Health Risk Likely pathogenic Ataxia-telangiectasia-like disorder 1, Hereditary cancer-predisposing syndrome
RS2135086778 YAP1 Health Risk Pathogenic Uveal coloboma-cleft lip and palate-intellectual disability, Uveal coloboma-cleft lip and palate-intellectual disability
RS2135086958 PAX6 Health Risk Pathogenic Irido-corneo-trabecular dysgenesis, Aniridia 1
RS2135087452 COL27A1 Health Risk Pathogenic —
RS2135088191 PAX6 Health Risk Pathogenic Irido-corneo-trabecular dysgenesis, Aniridia 1
RS2135096558 PAX6 Health Risk Likely pathogenic Irido-corneo-trabecular dysgenesis, Aniridia 1
RS2135097306 PAX6 Health Risk Conflicting classifications of pathogenicity Irido-corneo-trabecular dysgenesis, Aniridia 1
RS2135099978 PAX6 Health Risk Pathogenic —
RS2135101631 PAX6 Health Risk Pathogenic —
RS2135103989 RBM20 Health Risk Pathogenic Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS2135106385 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS2135114515 LTBP3 Health Risk Conflicting classifications of pathogenicity Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS2135120291 TECTA Health Risk Likely pathogenic Meniere disease, Meniere disease
RS2135120754 RBM20 Health Risk Conflicting classifications of pathogenicity Primary familial dilated cardiomyopathy, Dilated cardiomyopathy 1DD
RS2135120937 LTBP3 Health Risk Pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS2135121046 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS2135122447 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2135122539 MRE11 Health Risk Likely pathogenic Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder 1
RS2135123204 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135123918 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2135125210 LTBP3 Health Risk Likely pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Geleophysic dysplasia 3
RS2135126288 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2135127682 EXT2 Health Risk Pathogenic Exostoses, multiple
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