Source: CURATED

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: rs200750564
rs200750564
HOXD13
0.827 0.160 2 176094518 stop gained C/T snv 8.0E-06 7.0E-06
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		0.700 0
dbSNP: rs200750564
rs200750564
HOXD13
0.827 0.160 2 176094518 stop gained C/T snv 8.0E-06 7.0E-06
CUI: C0028960
Disease: Oligospermia
Oligospermia 		0.700 0
dbSNP: rs200750564
rs200750564
HOXD13
0.827 0.160 2 176094518 stop gained C/T snv 8.0E-06 7.0E-06
CUI: C0021364
Disease: Male infertility
Male infertility 		0.700 0
dbSNP: rs200750564
rs200750564
HOXD13
0.827 0.160 2 176094518 stop gained C/T snv 8.0E-06 7.0E-06
CUI: C4021606
Disease: Mesoaxial hand polydactyly
Mesoaxial hand polydactyly 		0.700 0
dbSNP: rs200750564
rs200750564
HOXD13
0.827 0.160 2 176094518 stop gained C/T snv 8.0E-06 7.0E-06
CUI: C0039075
Disease: Syndactyly
Syndactyly 		0.700 0
dbSNP: rs200750564
rs200750564
HOXD13
0.827 0.160 2 176094518 stop gained C/T snv 8.0E-06 7.0E-06
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.700 0