Source: CURATED

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: rs2227564
rs2227564
0.763 0.320 10 73913343 missense variant T/C snv 0.75 0.81
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.800 1.000 1 2012 2012
dbSNP: rs2227551
rs2227551
0.827 0.120 10 73909432 intron variant G/C;T snv
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 1.000 2 2015 2016
dbSNP: rs2227551
rs2227551
0.827 0.120 10 73909432 intron variant G/C;T snv
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.700 1.000 1 2016 2016
dbSNP: rs2227551
rs2227551
0.827 0.120 10 73909432 intron variant G/C;T snv
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 1.000 1 2016 2016
dbSNP: rs2227551
rs2227551
0.827 0.120 10 73909432 intron variant G/C;T snv
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.700 1.000 1 2016 2016
dbSNP: rs2227551
rs2227551
0.827 0.120 10 73909432 intron variant G/C;T snv
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
dbSNP: rs2227551
rs2227551
0.827 0.120 10 73909432 intron variant G/C;T snv
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs2227564
rs2227564
0.763 0.320 10 73913343 missense variant T/C snv 0.75 0.81
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 1.000 1 2017 2017
dbSNP: rs2227564
rs2227564
0.763 0.320 10 73913343 missense variant T/C snv 0.75 0.81
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
dbSNP: rs55744193
rs55744193
10 73912301 missense variant G/A snv 4.7E-03 4.9E-03
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018