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
RS2511630187 ATP8B1 Health Risk Likely pathogenic Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1
RS2511630211 ATP8B1 Health Risk Pathogenic Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1
RS2511630534 ATP8B1 Health Risk Likely pathogenic Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1
RS2511630610 ATP8B1 Health Risk Likely pathogenic Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1
RS2511630860 ATP8B1 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1
RS2511633571 TCF4 Health Risk Pathogenic Global developmental delay, Global developmental delay
RS2511634823 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS2511635953 TCF4 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2511636548 LAMA3 Health Risk Likely pathogenic —
RS2511637201 LAMA3 Health Risk Pathogenic —
RS2511637381 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS2511637449 LOXHD1 Health Risk Pathogenic —
RS2511637591 TCF4 Health Risk Likely pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS2511637612 LAMA3 Health Risk Pathogenic —
RS2511638111 LOXHD1 Health Risk Pathogenic —
RS2511638154 LAMA3 Health Risk Pathogenic —
RS2511638321 LAMA3 Health Risk Pathogenic —
RS2511638519 LOXHD1 Health Risk Pathogenic —
RS2511640838 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS2511644683 DCC Health Risk Pathogenic Mirror movements 1, Mirror movements 1
RS2511644864 DCC Health Risk Likely pathogenic Mirror movements 1, Mirror movements 1
RS2511649109 CAMK2D Health Risk Likely pathogenic Neurodevelopmental disorder, CAMK2D-related condition
RS2511649293 CAMK2D Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2511651126 CAMK2D Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2511651497 CAMK2D Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2511652298 ATP8B1 Health Risk Pathogenic —
RS2511652485 ATP8B1 Health Risk Likely pathogenic ATP8B1-related disorder, ATP8B1-related disorder
RS2511652728 ATP8B1 Health Risk Likely pathogenic Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1
RS2511652911 ATP8B1 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1
RS2511653799 LAMA3 Health Risk Pathogenic —
RS2511653938 ATP8B1 Health Risk Pathogenic —
RS2511660862 LOXHD1 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS2511669991 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511682630 LAMA3 Health Risk Likely pathogenic —
RS2511685048 ATP8B1 Health Risk Pathogenic —
RS2511688783 ATP8B1 Health Risk Likely pathogenic Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1
RS2511693960 LAMA3 Health Risk Pathogenic —
RS2511694133 LOXHD1 Health Risk Pathogenic —
RS2511694971 ATP8B1 Health Risk Likely pathogenic Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1
RS2511696300 HNF1B Health Risk Likely pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511700032 EPG5 Health Risk Likely pathogenic EPG5-related disorder, EPG5-related disorder
RS2511700116 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511700701 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511700721 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511701024 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511701087 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511701093 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511701125 HNF1B Health Risk Likely pathogenic HNF1B-related disorder, HNF1B-related disorder
RS2511701146 HNF1B Health Risk Likely pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511702559 LAMA3 Health Risk Pathogenic Colon adenocarcinoma, Colon adenocarcinoma
RS2511706451 ATP8B1 Health Risk Likely pathogenic Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1
RS2511706903 ATP8B1 Health Risk Likely pathogenic Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1
RS2511709473 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511709655 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511709669 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511709863 HNF1B Health Risk Conflicting classifications of pathogenicity Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511709958 HNF1B Health Risk Likely pathogenic HNF1B-related disorder, HNF1B-related disorder
RS2511711755 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS2511711803 BPTF Health Risk Likely pathogenic Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
RS2511712134 LOXHD1 Health Risk Pathogenic —
RS2511712153 EPG5 Health Risk Likely pathogenic Vici syndrome, Vici syndrome
RS2511713149 LOXHD1 Health Risk Pathogenic —
RS2511718145 LOXHD1 Health Risk Pathogenic —
RS2511723225 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511723229 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511723592 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511723637 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511723663 HNF1B Health Risk Pathogenic —
RS2511723972 HNF1B Health Risk Pathogenic/Likely pathogenic Renal cysts and diabetes syndrome, Type 2 diabetes mellitus
RS2511724129 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511724255 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511724279 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511724285 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2511728615 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS2511730891 SERPINB8 Health Risk Likely pathogenic Peeling skin syndrome 5, Peeling skin syndrome 5
RS2511734971 LOXHD1 Health Risk Pathogenic —
RS2511735449 LOXHD1 Health Risk Pathogenic —
RS2511735560 LOXHD1 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS2511735833 LOXHD1 Health Risk Pathogenic —
RS2511735868 LOXHD1 Health Risk Pathogenic —
RS2511740184 GREB1L Health Risk Pathogenic/Likely pathogenic Renal hypodysplasia/aplasia 3, Renal hypodysplasia/aplasia 3
RS2511745907 ATP8B1 Health Risk Pathogenic —
RS2511746082 ATP8B1 Health Risk Pathogenic —
RS2511746878 ATP8B1 Health Risk Pathogenic/Likely pathogenic Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1
RS2511752391 LOXHD1 Health Risk Pathogenic —
RS2511756942 ATP8B1 Health Risk Pathogenic Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1
RS2511757259 ATP8B1 Health Risk Pathogenic —
RS2511757617 ATP8B1 Health Risk Pathogenic —
RS2511757734 ATP8B1 Health Risk Likely pathogenic Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1
RS2511766728 ATP8B1 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2511769346 ATP8B1 Health Risk Likely pathogenic Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1
RS2511769435 ATP8B1 Health Risk Likely pathogenic Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1
RS2511769499 ATP8B1 Health Risk Pathogenic —
RS2511769729 ATP8B1 Health Risk Likely pathogenic Benign recurrent intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis
RS2511770981 ATP8B1 Health Risk Likely pathogenic Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1
RS2511771213 ATP8B1 Health Risk Likely pathogenic Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1
RS2511771233 ATP8B1 Health Risk Likely pathogenic Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1
RS2511771401 ATP8B1 Health Risk Likely pathogenic Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1
RS2511775323 EPG5 Health Risk Likely pathogenic Vici syndrome, Vici syndrome
RS2511776301 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
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