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: rs7538157
rs7538157
1 169382306 intron variant A/C;G snv 5.9E-03; 6.2E-05
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
Cardiovascular Diseases 0.700 1.000 2 2011 2012
dbSNP: rs137902590
rs137902590
1 169392406 intron variant A/T snv 3.6E-03
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
dbSNP: rs112226207
rs112226207
1.000 0.120 1 169376645 missense variant A/G snv 5.1E-04 2.1E-03
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 1996 1996
dbSNP: rs1320938886
rs1320938886
0.851 0.040 1 169376605 missense variant T/G snv 4.0E-06
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs1320938886
rs1320938886
0.851 0.040 1 169376605 missense variant T/G snv 4.0E-06
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma
Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs1320938886
rs1320938886
0.851 0.040 1 169376605 missense variant T/G snv 4.0E-06
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs1320938886
rs1320938886
0.851 0.040 1 169376605 missense variant T/G snv 4.0E-06
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
Neoplasms 0.010 1.000 1 2016 2016