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
RS2511777479 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS2511778163 ATP8B1 Health Risk Likely pathogenic Cholestasis, intrahepatic
RS2511779603 ATP8B1 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1
RS2511791431 ATP8B1 Health Risk Pathogenic —
RS2511793552 EPG5 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2511794481 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS2511794710 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS2511795260 EPG5 Health Risk Likely pathogenic Vici syndrome, Vici syndrome
RS2511799864 HNF1B Health Risk Likely pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511799961 HNF1B Health Risk Likely pathogenic —
RS2511799967 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511799974 HNF1B Health Risk Pathogenic —
RS2511800370 DCC Health Risk Likely pathogenic DCC-related disorder, DCC-related disorder
RS2511800400 HNF1B Health Risk Likely pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511800544 DCC Health Risk Pathogenic Mirror movements 1 and/or agenesis of the corpus callosum, Mirror movements 1 and/or agenesis of the corpus callosum
RS2511800737 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511800778 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511800921 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511800990 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511801162 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511801219 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511801331 HNF1B Health Risk Likely pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511801375 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511801571 HNF1B Health Risk Likely pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511801587 HNF1B Health Risk Likely pathogenic Renal cysts and diabetes syndrome, HNF1B-related disorder
RS2511801622 HNF1B Health Risk Likely pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511801683 HNF1B Health Risk Likely pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511801729 HNF1B Health Risk Pathogenic/Likely pathogenic Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
RS2511801834 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511801868 HNF1B Health Risk Pathogenic/Likely pathogenic Renal cysts and diabetes syndrome, Nonpapillary renal cell carcinoma
RS2511801962 HNF1B Health Risk Likely pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511801988 HNF1B Health Risk Conflicting classifications of pathogenicity Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511802034 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511802149 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511802259 HNF1B Health Risk Pathogenic/Likely pathogenic Renal cysts and diabetes syndrome, Type 2 diabetes mellitus
RS2511802320 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511802356 HNF1B Health Risk Likely pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511806058 ATP8B1 Health Risk Pathogenic —
RS2511806400 ATP8B1 Health Risk Pathogenic/Likely pathogenic ATP8B1-related disorder, Benign recurrent intrahepatic cholestasis type 1
RS2511808395 HNF1B Health Risk Likely pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511808449 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511808486 HNF1B Health Risk Pathogenic HNF1B-related disorder, HNF1B-related disorder
RS2511808529 HNF1B Health Risk Conflicting classifications of pathogenicity Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511808635 HNF1B Health Risk Likely pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511808673 HNF1B Health Risk Likely pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511808834 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511808889 HNF1B Health Risk Likely pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511808998 HNF1B Health Risk Likely pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511809016 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511809149 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511809161 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511810127 HNF1B Health Risk Likely pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511816676 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS2511821297 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS2511826553 LOXHD1 Health Risk Pathogenic —
RS2511827193 LOXHD1 Health Risk Likely pathogenic —
RS2511827891 HNF1B Health Risk Conflicting classifications of pathogenicity Renal cysts and diabetes syndrome, Nonpapillary renal cell carcinoma
RS2511827898 HNF1B Health Risk Likely pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511827914 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511827924 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511828073 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511828138 HNF1B Health Risk Pathogenic/Likely pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511828153 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511828229 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511828400 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511828535 HNF1B Health Risk Likely pathogenic Renal cysts and diabetes syndrome, HNF1B-related disorder
RS2511828597 HNF1B Health Risk Likely pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511828657 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511828716 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511828732 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511828837 HNF1B Health Risk Pathogenic/Likely pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511828892 HNF1B Health Risk Likely pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511828963 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511828996 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511829039 HNF1B Health Risk Likely pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511829055 HNF1B Health Risk Likely pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511829092 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511829096 GREB1L Health Risk Pathogenic Mayer Rokitansky Kuster Hauser syndrome type 1, Mayer Rokitansky Kuster Hauser syndrome type 1
RS2511829137 HNF1B Health Risk Conflicting classifications of pathogenicity Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511829158 HNF1B Health Risk Likely pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511829328 HNF1B Health Risk Likely pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511829341 HNF1B Health Risk Likely pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511829359 HNF1B Health Risk Likely pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511829513 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511829602 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511829635 HNF1B Health Risk Likely pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511829671 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511829685 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511829901 HNF1B Health Risk Likely pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511829909 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511830005 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511830029 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511830105 HNF1B Health Risk Likely pathogenic Renal cysts and diabetes syndrome, Type 2 diabetes mellitus
RS2511830562 LOXHD1 Health Risk Pathogenic —
RS2511831921 LOXHD1 Health Risk Pathogenic —
RS2511832478 LOXHD1 Health Risk Pathogenic —
RS2511833089 LOXHD1 Health Risk Pathogenic —
RS2511833194 LOXHD1 Health Risk Pathogenic —
RS2511834817 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS2511835278 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
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