Source: UNIPROT

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: rs104886003
rs104886003
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 1.000 2 2005 2005
dbSNP: rs104886003
rs104886003
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
Megalencephaly cutis marmorata telangiectatica congenita
0.800 1.000 2 2012 2016
dbSNP: rs104886003
rs104886003
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.800 1.000 1 2007 2007
dbSNP: rs104886003
rs104886003
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.760 1.000 1 2006 2019