Source: GWASCAT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2235371
rs2235371
0.752 0.360 1 209790735 missense variant C/T snv 8.7E-02 3.9E-02
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
0.740 1.000 1 2004 2015
dbSNP: rs2235371
rs2235371
0.752 0.360 1 209790735 missense variant C/T snv 8.7E-02 3.9E-02
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
0.730 0.750 1 2009 2019
dbSNP: rs59043219
rs59043219
1.000 0.040 1 209797265 intron variant G/A snv 0.36
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.700 1.000 1 2017 2017
dbSNP: rs59043219
rs59043219
1.000 0.040 1 209797265 intron variant G/A snv 0.36
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 1.000 1 2017 2017
dbSNP: rs7555285
rs7555285
1 209797010 intron variant G/C snv 0.81
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.700 1.000 1 2018 2018