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: rs3130501
rs3130501
POU5F1
0.851 0.280 6 31168676 intron variant A/G snv 0.78
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.820 0.750 1 2014 2017
dbSNP: rs3094188
rs3094188
POU5F1 ; PSORS1C3
0.882 0.200 6 31174468 intron variant C/A;T snv 0.68
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.800 1.000 1 2013 2013
dbSNP: rs3130501
rs3130501
POU5F1
0.851 0.280 6 31168676 intron variant A/G snv 0.78
CUI: C0038325
Disease: Stevens-Johnson Syndrome
Stevens-Johnson Syndrome 		0.800 1.000 1 2011 2011
dbSNP: rs3131018
rs3131018
POU5F1 ; PSORS1C3
1.000 6 31175805 intron variant A/C;G snv
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.800 1.000 1 2010 2010
dbSNP: rs3131018
rs3131018
POU5F1 ; PSORS1C3
1.000 6 31175805 intron variant A/C;G snv
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.800 1.000 1 2010 2010
dbSNP: rs3131018
rs3131018
POU5F1 ; PSORS1C3
1.000 6 31175805 intron variant A/C;G snv
CUI: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		0.800 1.000 1 2010 2010
dbSNP: rs3131018
rs3131018
POU5F1 ; PSORS1C3
1.000 6 31175805 intron variant A/C;G snv
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		0.800 1.000 1 2010 2010
dbSNP: rs3132524
rs3132524
POU5F1
0.925 0.160 6 31168937 intron variant T/C snv 0.78
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.800 1.000 1 2014 2014
dbSNP: rs1062630
rs1062630
POU5F1
6 31170330 synonymous variant G/A snv 0.18 0.22
CUI: C0149678
Disease: Epstein-Barr Virus Infections
Epstein-Barr Virus Infections 		0.700 1.000 1 2017 2017
dbSNP: rs116805908
rs116805908
POU5F1 ; PSORS1C3
1.000 0.080 6 31173746 non coding transcript exon variant C/T snv
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic 		0.700 1.000 1 2019 2019
dbSNP: rs116834467
rs116834467
POU5F1 ; PSORS1C3
6 31174193 intron variant C/A snv
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1265159
rs1265159
POU5F1
0.882 0.240 6 31172270 intron variant G/A snv 0.21
CUI: C0017665
Disease: Membranous glomerulonephritis
Membranous glomerulonephritis 		0.700 1.000 1 2011 2011
dbSNP: rs185402687
rs185402687
POU5F1
6 31168212 intron variant G/C snv 7.5E-03
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs3094188
rs3094188
POU5F1 ; PSORS1C3
0.882 0.200 6 31174468 intron variant C/A;T snv 0.68
CUI: C0038325
Disease: Stevens-Johnson Syndrome
Stevens-Johnson Syndrome 		0.700 1.000 1 2011 2011
dbSNP: rs3094188
rs3094188
POU5F1 ; PSORS1C3
0.882 0.200 6 31174468 intron variant C/A;T snv 0.68
CUI: C0014518
Disease: Toxic Epidermal Necrolysis
Toxic Epidermal Necrolysis 		0.700 1.000 1 2011 2011
dbSNP: rs3130501
rs3130501
POU5F1
0.851 0.280 6 31168676 intron variant A/G snv 0.78
CUI: C0014518
Disease: Toxic Epidermal Necrolysis
Toxic Epidermal Necrolysis 		0.700 1.000 1 2011 2011
dbSNP: rs3130931
rs3130931
POU5F1 ; TCF19
0.925 0.160 6 31167111 5 prime UTR variant T/A;C snv
CUI: C0014518
Disease: Toxic Epidermal Necrolysis
Toxic Epidermal Necrolysis 		0.700 1.000 1 2011 2011
dbSNP: rs3130931
rs3130931
POU5F1 ; TCF19
0.925 0.160 6 31167111 5 prime UTR variant T/A;C snv
CUI: C0038325
Disease: Stevens-Johnson Syndrome
Stevens-Johnson Syndrome 		0.700 1.000 1 2011 2011
dbSNP: rs879882
rs879882
POU5F1
1.000 0.160 6 31171675 intron variant T/C;G snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2010 2010