Gene: KIT ×
Source: CLINVAR ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121913679
rs121913679
KIT
1 1.000 0.120 4 54728121 missense variant G/A snv 0.800 1.000 0 1991 2000
dbSNP: rs121913680
rs121913680
KIT
1 0.925 0.200 4 54727515 missense variant G/A snv 0.800 1.000 0 1991 2000
dbSNP: rs121913687
rs121913687
KIT
1 1.000 0.120 4 54736552 missense variant A/C snv 0.800 1.000 0 1991 2000
dbSNP: rs28933371
rs28933371
KIT
1 1.000 0.120 4 54727519 missense variant T/G snv 0.800 1.000 0 1991 2000
dbSNP: rs794726671
rs794726671
KIT
1 1.000 0.120 4 54727520 missense variant T/G snv 0.800 0
dbSNP: rs1560419312
rs1560419312
KIT
4 1.000 0.120 4 54729344 missense variant T/G snv 0.700 0
dbSNP: rs794726672
rs794726672
KIT
1 1.000 0.120 4 54728055 frameshift variant AA/- delins 0.700 0
dbSNP: rs794726673
rs794726673
KIT
1 1.000 0.120 4 54727448 frameshift variant -/G delins 0.700 0
dbSNP: rs794726674
rs794726674
KIT
1 1.000 0.120 4 54695696 frameshift variant G/- delins 0.700 0
dbSNP: rs794726675
rs794726675
KIT
1 1.000 0.120 4 54727928 splice donor variant G/A snv 0.700 0