rs2070074, GALT

N. diseases: 12
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Classical galactosemia
CUI: C0268151
Disease: Classical galactosemia
233 0.742 0.360 9 34649445 missense variant A/G snv 9.2E-02 7.4E-02 0.890 1.000 35 1991 2016
Galactosemias
CUI: C0016952
Disease: Galactosemias
16 0.742 0.360 9 34649445 missense variant A/G snv 9.2E-02 7.4E-02 0.090 1.000 9 1994 2012
Carcinoma, Ovarian Epithelial
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
327 0.742 0.360 9 34649445 missense variant A/G snv 9.2E-02 7.4E-02 0.050 0.800 5 1998 2003
Endometriosis
CUI: C0014175
Disease: Endometriosis
274 0.742 0.360 9 34649445 missense variant A/G snv 9.2E-02 7.4E-02 0.050 0.800 5 1996 2006
Malignant neoplasm of ovary
CUI: C1140680
Disease: Malignant neoplasm of ovary
315 0.742 0.360 9 34649445 missense variant A/G snv 9.2E-02 7.4E-02 0.050 0.800 5 1998 2003
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
757 0.742 0.360 9 34649445 missense variant A/G snv 9.2E-02 7.4E-02 0.050 0.800 5 1998 2003
Agenesis of vagina
CUI: C1261251
Disease: Agenesis of vagina
1 0.742 0.360 9 34649445 missense variant A/G snv 9.2E-02 7.4E-02 0.010 1.000 1 1996 1996
Blood Protein Measurement
CUI: C2985280
Disease: Blood Protein Measurement
2575 0.742 0.360 9 34649445 missense variant A/G snv 9.2E-02 7.4E-02 0.700 1.000 1 2018 2018
Cataract
CUI: C0086543
Disease: Cataract
124 0.742 0.360 9 34649445 missense variant A/G snv 9.2E-02 7.4E-02 0.010 1.000 1 2003 2003
Epithelial ovarian cancer
CUI: C0677886
Disease: Epithelial ovarian cancer
129 0.742 0.360 9 34649445 missense variant A/G snv 9.2E-02 7.4E-02 0.010 1.000 1 2003 2003
Rokitansky Kuster Hauser syndrome
CUI: C1698581
Disease: Rokitansky Kuster Hauser syndrome
3 0.742 0.360 9 34649445 missense variant A/G snv 9.2E-02 7.4E-02 0.010 1.000 1 1996 1996
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.742 0.360 9 34649445 missense variant A/G snv 9.2E-02 7.4E-02 0.010 1.000 1 1996 1996