Source: UNIPROT

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: rs121913679
rs121913679
KIT
1.000 0.120 4 54728121 missense variant G/A snv
CUI: C0080024
Disease: Piebaldism
Piebaldism 		0.800 1.000 8 1991 2000
dbSNP: rs121913680
rs121913680
KIT
0.925 0.200 4 54727515 missense variant G/A snv
CUI: C0080024
Disease: Piebaldism
Piebaldism 		0.800 1.000 8 1991 2000
dbSNP: rs121913687
rs121913687
KIT
1.000 0.120 4 54736552 missense variant A/C snv
CUI: C0080024
Disease: Piebaldism
Piebaldism 		0.800 1.000 8 1991 2000
dbSNP: rs28933371
rs28933371
KIT
1.000 0.120 4 54727519 missense variant T/G snv
CUI: C0080024
Disease: Piebaldism
Piebaldism 		0.800 1.000 8 1991 2000
dbSNP: rs794726671
rs794726671
KIT
1.000 0.120 4 54727520 missense variant T/G snv
CUI: C0080024
Disease: Piebaldism
Piebaldism 		0.800 0
dbSNP: rs121913684
rs121913684
KIT
0.925 0.120 4 54733094 missense variant A/G snv
CUI: C0080024
Disease: Piebaldism
Piebaldism 		0.700 1.000 8 1991 2000