Source: ALL
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 8 1991 2000
dbSNP: rs121913680
rs121913680
KIT
3 0.925 0.200 4 54727515 missense variant G/A snv 0.800 1.000 8 1991 2000
dbSNP: rs121913687
rs121913687
KIT
1 1.000 0.120 4 54736552 missense variant A/C snv 0.800 1.000 8 1991 2000
dbSNP: rs28933371
rs28933371
KIT
1 1.000 0.120 4 54727519 missense variant T/G snv 0.800 1.000 8 1991 2000
dbSNP: rs794726671
rs794726671
KIT
1 1.000 0.120 4 54727520 missense variant T/G snv 0.800 0
dbSNP: rs121913684
rs121913684
KIT
2 0.925 0.120 4 54733094 missense variant A/G snv 0.700 1.000 8 1991 2000
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
dbSNP: rs387907217
rs387907217
KIT
4 0.882 0.120 4 54727907 missense variant T/C snv 0.030 1.000 3 2001 2006
dbSNP: rs1063192
rs1063192
CDKN2B ; CDKN2B-AS1
24 0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1412829
rs1412829
CDKN2B-AS1
14 0.742 0.400 9 22043927 intron variant A/G snv 0.28 0.010 1.000 1 2015 2015
dbSNP: rs2157719
rs2157719
CDKN2B-AS1
17 0.708 0.360 9 22033367 non coding transcript exon variant C/T snv 0.71 0.010 1.000 1 2015 2015
dbSNP: rs2736100
rs2736100
TERT
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.010 1.000 1 2015 2015
dbSNP: rs33932559
rs33932559
MC1R
2 0.925 0.160 16 89919617 missense variant T/C snv 3.1E-03 1.1E-03 0.010 1.000 1 2013 2013
dbSNP: rs4977756
rs4977756
CDKN2B-AS1
24 0.683 0.440 9 22068653 intron variant G/A snv 0.64 0.010 1.000 1 2015 2015