Source: ALL

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: rs6861925
rs6861925
HK3
1.000 5 176897728 intron variant G/C snv 0.58
CUI: C2242776
Disease: Plexiform leiomyoma
Plexiform leiomyoma 		0.700 1.000 1 2018 2018
dbSNP: rs6861925
rs6861925
HK3
1.000 5 176897728 intron variant G/C snv 0.58
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		0.700 1.000 1 2018 2018
dbSNP: rs376532514
rs376532514
HK3
1.000 0.080 5 176887613 missense variant G/A;C;T snv 3.6E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 0
dbSNP: rs755546220
rs755546220
HK3
1.000 0.080 5 176887555 missense variant G/A snv 4.8E-05 1.1E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs2278493
rs2278493
HK3
0.925 0.080 5 176887433 intron variant C/T snv 0.36 0.29
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		0.010 1.000 1 2014 2014
dbSNP: rs2278493
rs2278493
HK3
0.925 0.080 5 176887433 intron variant C/T snv 0.36 0.29
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		0.010 1.000 1 2014 2014