SLC22A4, solute carrier family 22 member 4, 6583

N. diseases: 90; N. variants: 21
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1050152
rs1050152
0.776 0.480 5 132340627 missense variant C/T snv 0.29 0.28
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
Digestive System Diseases 0.800 0.917 12 2006 2017
dbSNP: rs272888
rs272888
1.000 0.040 5 132329730 intron variant T/C snv 0.71
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
Digestive System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs272879
rs272879
0.882 0.040 5 132334853 synonymous variant C/A;G;T snv 4.0E-06; 0.57
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
Digestive System Diseases 0.010 < 0.001 1 2010 2010
dbSNP: rs272893
rs272893
0.925 0.160 5 132327369 missense variant T/C;G snv 0.58; 4.0E-06
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
Digestive System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs3792876
rs3792876
0.790 0.280 5 132301616 intron variant C/T snv 6.9E-02
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
Digestive System Diseases 0.010 1.000 1 2005 2005