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: rs1801085
rs1801085
1.000 0.120 7 27128971 splice region variant A/G snv 0.16
CUI: C0848558
Disease: Hypospadias
Hypospadias
0.700 1.000 1 2014 2014