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: rs2066479
rs2066479
HSD17B3
0.790 0.160 9 96235528 missense variant C/A;G;T snv 7.2E-02
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		0.010 1.000 1 2017 2017
dbSNP: rs2066479
rs2066479
HSD17B3
0.790 0.160 9 96235528 missense variant C/A;G;T snv 7.2E-02
CUI: C0014175
Disease: Endometriosis
Endometriosis 		0.010 1.000 1 2012 2012
dbSNP: rs2066479
rs2066479
HSD17B3
0.790 0.160 9 96235528 missense variant C/A;G;T snv 7.2E-02
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 1.000 1 2002 2002
dbSNP: rs2066479
rs2066479
HSD17B3
0.790 0.160 9 96235528 missense variant C/A;G;T snv 7.2E-02
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		0.010 1.000 1 2010 2010
dbSNP: rs2066479
rs2066479
HSD17B3
0.790 0.160 9 96235528 missense variant C/A;G;T snv 7.2E-02
CUI: C0848558
Disease: Hypospadias
Hypospadias 		0.010 1.000 1 2010 2010
dbSNP: rs2066479
rs2066479
HSD17B3
0.790 0.160 9 96235528 missense variant C/A;G;T snv 7.2E-02
CUI: C4551492
Disease: Micropenis
Micropenis 		0.010 1.000 1 2017 2017
dbSNP: rs2066479
rs2066479
HSD17B3
0.790 0.160 9 96235528 missense variant C/A;G;T snv 7.2E-02
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 1.000 1 2002 2002