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
RS2543942324 CDH1 Health Risk Pathogenic/Likely pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543942391 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543942394 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543942560 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS2543942807 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543942891 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543942988 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543943025 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543945245 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543945356 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543945614 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543945637 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543945714 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543945754 CDH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543945796 CDH1 Health Risk Likely pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543945825 CDH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543946087 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543946103 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543946349 CDH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543946411 CDH1 Health Risk Likely pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543946414 CDH1 Health Risk Likely pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543952522 ZEB1 Health Risk Likely pathogenic Corneal dystrophy, Fuchs endothelial
RS2543952851 XYLT2 Health Risk Pathogenic —
RS2543953404 CDH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543953408 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543953615 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS2543953717 ZEB1 Health Risk Pathogenic —
RS2543953753 STX1B Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 9
RS2543954146 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543954791 STX1B Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 9
RS2543955657 CNOT1 Health Risk Likely pathogenic CNOT1-related disorder, CNOT1-related disorder
RS2543956688 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543956704 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543956771 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543956876 CDH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543957062 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543957093 CDH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS2543957595 CDH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543957611 CDH1 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2543959973 STX1B Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 9
RS2543959987 STX1B Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 9
RS2543960013 STX1B Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 9
RS2543960014 STX1B Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 9
RS2543960538 STX1B Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 9
RS2543960933 STX1B Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 9
RS2543960999 STX1B Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 9
RS2543961096 STX1B Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 9
RS2543962978 CDH1 Health Risk Likely pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543963853 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543964027 XYLT2 Health Risk Pathogenic —
RS2543964259 CDH1 Health Risk Likely pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543964275 CDH1 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2543964491 CDH1 Health Risk Likely pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543964831 CDH1 Health Risk Likely pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2543965279 RPGRIP1L Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2543965504 CDH1 Health Risk Pathogenic Gastric cancer, Gastric cancer
RS2543965910 CDH1 Health Risk Conflicting classifications of pathogenicity Ovarian cancer, Hereditary diffuse gastric adenocarcinoma
RS2543966207 RPGRIP1L Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2543968134 STX1B Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 9
RS2543968405 ZEB1 Health Risk Pathogenic/Likely pathogenic Corneal dystrophy, Fuchs endothelial
RS2543968571 VPS25 Health Risk Likely pathogenic VPS25-related neurodevelopmental delay, VPS25-related neurodevelopmental delay
RS2543975472 STX1B Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 9
RS2543976914 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS2543987968 ZEB1 Health Risk Pathogenic —
RS2543989370 RPGRIP1L Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2543993592 ZEB1 Health Risk Pathogenic Corneal dystrophy, Corneal dystrophy
RS2544002792 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS2544005148 ZEB1 Health Risk Likely pathogenic —
RS2544005779 WNK4 Health Risk Likely pathogenic WNK4-related disorder, WNK4-related disorder
RS2544006774 ZEB1 Health Risk Pathogenic —
RS2544009221 RPL26 Health Risk Pathogenic Diamond-Blackfan anemia 11, Diamond-Blackfan anemia 11
RS2544009466 RPL26 Health Risk Likely pathogenic Diamond-Blackfan anemia 11, Diamond-Blackfan anemia 11
RS2544010895 RPL26 Health Risk Likely pathogenic Diamond-Blackfan anemia 11, Diamond-Blackfan anemia 11
RS2544021854 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544023060 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544030726 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2544030819 GRIN2A Health Risk Pathogenic —
RS2544032026 TSC2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2544032618 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544033057 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2544034770 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544036138 TSC2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2544036992 JUP Health Risk Pathogenic Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS2544039763 RPGRIP1L Health Risk Likely pathogenic Joubert syndrome 7, Joubert syndrome 7
RS2544040196 RPGRIP1L Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2544043696 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544044964 RPGRIP1L Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2544045443 TCF7L2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2544046016 TSC2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2544046250 RPGRIP1L Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2544047995 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544048142 RPGRIP1L Health Risk Likely pathogenic RPGRIP1L-related disorder, RPGRIP1L-related disorder
RS2544050841 JUP Health Risk Likely pathogenic Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS2544053417 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544054315 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544055758 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544063648 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544066099 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544066740 KAT2A Health Risk Likely pathogenic See cases, See cases
RS2544067323 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis syndrome
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