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
RS2079758064 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2079758855 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2079760023 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2079760518 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2079766417 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2079769316 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2079771517 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2079775247 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2079784277 UNC80 Health Risk Pathogenic —
RS2079784643 UNC80 Health Risk Pathogenic —
RS2079812566 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2079817617 TTN Health Risk Pathogenic —
RS2079824761 ANK2 Health Risk Likely pathogenic —
RS2079877131 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2079879604 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2079883068 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2079885893 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2079886452 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2079890365 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2079892237 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2079894242 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2079910913 MED13 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2079949302 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2079959227 KCNQ2 Health Risk Pathogenic Seizures, benign familial neonatal
RS2079962041 KCNQ2 Health Risk Pathogenic/Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2079966010 SOX5 Health Risk Pathogenic Lamb-Shaffer syndrome, Lamb-Shaffer syndrome
RS2079966206 SUMF1 Health Risk Likely pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS2079966666 SUMF1 Health Risk Pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS2079972258 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2079975361 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2079980257 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2079990109 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2079990512 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2079990831 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2079992934 ATM Health Risk Likely pathogenic —
RS2079995970 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2079998938 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2079999064 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2080001212 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2080047817 MED13 Health Risk Pathogenic Intellectual developmental disorder 61, Intellectual developmental disorder 61
RS2080077889 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2080088451 ATM Health Risk Pathogenic Colorectal cancer, Colorectal cancer
RS2080097197 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2080098372 NEXMIF Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2080101130 NEXMIF Health Risk Pathogenic —
RS2080101583 NEXMIF Health Risk Likely pathogenic X-linked intellectual disability, Cantagrel type
RS2080101661 NEXMIF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, X-linked intellectual disability
RS2080101717 NEXMIF Health Risk Pathogenic X-linked intellectual disability, Cantagrel type
RS2080101851 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2080102020 NEXMIF Health Risk Conflicting classifications of pathogenicity —
RS2080102486 NEXMIF Health Risk Pathogenic X-linked intellectual disability, Cantagrel type
RS2080102842 NEXMIF Health Risk Pathogenic Seizure, Seizure
RS2080103035 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2080103357 NEXMIF Health Risk Pathogenic —
RS2080104332 NEXMIF Health Risk Pathogenic —
RS2080104347 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2080104580 NEXMIF Health Risk Pathogenic X-linked intellectual disability, Cantagrel type
RS2080104786 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2080104883 NEXMIF Health Risk Pathogenic —
RS2080105212 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2080105463 NEXMIF Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2080105696 NEXMIF Health Risk Pathogenic X-linked intellectual disability, Cantagrel type
RS2080106267 CHST6 Health Risk Pathogenic Macular corneal dystrophy, Macular corneal dystrophy
RS2080106350 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2080107446 NEXMIF Health Risk Pathogenic —
RS2080108960 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2080109094 CHST6 Health Risk Conflicting classifications of pathogenicity Macular corneal dystrophy, Macular corneal dystrophy
RS2080109121 NEXMIF Health Risk Pathogenic —
RS2080109236 NEXMIF Health Risk Likely pathogenic X-linked intellectual disability, Cantagrel type
RS2080109832 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2080110445 NEXMIF Health Risk Pathogenic —
RS2080111520 NEXMIF Health Risk Pathogenic X-linked intellectual disability, Cantagrel type
RS2080112105 NEXMIF Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2080112467 NEXMIF Health Risk Pathogenic —
RS2080112480 NEXMIF Health Risk Pathogenic —
RS2080112579 NEXMIF Health Risk Pathogenic X-linked intellectual disability, Cantagrel type
RS2080113065 NEXMIF Health Risk Pathogenic X-linked intellectual disability, Cantagrel type
RS2080113099 NEXMIF Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2080113609 NEXMIF Health Risk Pathogenic —
RS2080114187 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2080114203 NEXMIF Health Risk Pathogenic X-linked intellectual disability, Cantagrel type
RS2080114608 NEXMIF Health Risk Pathogenic —
RS2080115006 NEXMIF Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2080115075 ATM Health Risk Likely pathogenic Malignant tumor of breast, Malignant tumor of breast
RS2080115284 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2080115875 NEXMIF Health Risk Pathogenic —
RS2080115947 NEXMIF Health Risk Conflicting classifications of pathogenicity —
RS2080115999 NEXMIF Health Risk Pathogenic X-linked intellectual disability, Cantagrel type
RS2080116341 NEXMIF Health Risk Pathogenic —
RS2080116462 NEXMIF Health Risk Likely pathogenic X-linked intellectual disability, Cantagrel type
RS2080116669 NEXMIF Health Risk Pathogenic —
RS2080116822 NEXMIF Health Risk Pathogenic/Likely pathogenic —
RS2080117063 NEXMIF Health Risk Pathogenic —
RS2080117124 NEXMIF Health Risk Pathogenic —
RS2080117161 NEXMIF Health Risk Pathogenic —
RS2080117225 NEXMIF Health Risk Pathogenic —
RS2080117236 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2080117672 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2080118279 NEXMIF Health Risk Pathogenic X-linked intellectual disability, Cantagrel type
RS2080118610 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
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