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: rs104894562
rs104894562
0.882 0.200 17 28529157 stop gained C/T snv 4.0E-06 7.0E-06
CUI: C0000846
Disease: Agenesis
Agenesis
0.010 1.000 1 2012 2012
dbSNP: rs104894562
rs104894562
0.882 0.200 17 28529157 stop gained C/T snv 4.0E-06 7.0E-06
CUI: C0263505
Disease: Alopecia universalis
Alopecia universalis
0.010 1.000 1 2012 2012