Source: BEFREE

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: rs2070074
rs2070074
GALT
0.742 0.360 9 34649445 missense variant A/G snv 9.2E-02 7.4E-02
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia 		0.890 1.000 9 1991 2016
dbSNP: rs2070074
rs2070074
GALT
0.742 0.360 9 34649445 missense variant A/G snv 9.2E-02 7.4E-02
CUI: C0016952
Disease: Galactosemias
Galactosemias 		0.090 1.000 9 1994 2012
dbSNP: rs2070074
rs2070074
GALT
0.742 0.360 9 34649445 missense variant A/G snv 9.2E-02 7.4E-02
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.050 0.800 5 1998 2003
dbSNP: rs2070074
rs2070074
GALT
0.742 0.360 9 34649445 missense variant A/G snv 9.2E-02 7.4E-02
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.050 0.800 5 1998 2003
dbSNP: rs2070074
rs2070074
GALT
0.742 0.360 9 34649445 missense variant A/G snv 9.2E-02 7.4E-02
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.050 0.800 5 1998 2003
dbSNP: rs2070074
rs2070074
GALT
0.742 0.360 9 34649445 missense variant A/G snv 9.2E-02 7.4E-02
CUI: C0014175
Disease: Endometriosis
Endometriosis 		0.050 0.800 5 1996 2006
dbSNP: rs2070074
rs2070074
GALT
0.742 0.360 9 34649445 missense variant A/G snv 9.2E-02 7.4E-02
CUI: C0086543
Disease: Cataract
Cataract 		0.010 1.000 1 2003 2003
dbSNP: rs2070074
rs2070074
GALT
0.742 0.360 9 34649445 missense variant A/G snv 9.2E-02 7.4E-02
CUI: C1698581
Disease: Rokitansky Kuster Hauser syndrome
Rokitansky Kuster Hauser syndrome 		0.010 1.000 1 1996 1996
dbSNP: rs2070074
rs2070074
GALT
0.742 0.360 9 34649445 missense variant A/G snv 9.2E-02 7.4E-02
CUI: C1261251
Disease: Agenesis of vagina
Agenesis of vagina 		0.010 1.000 1 1996 1996
dbSNP: rs2070074
rs2070074
GALT
0.742 0.360 9 34649445 missense variant A/G snv 9.2E-02 7.4E-02
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		0.010 1.000 1 2003 2003
dbSNP: rs2070074
rs2070074
GALT
0.742 0.360 9 34649445 missense variant A/G snv 9.2E-02 7.4E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.010 1.000 1 1996 1996