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: rs1010184002
rs1010184002
60 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs1057519946
rs1057519946
18 0.732 0.280 19 52212729 missense variant C/G;T snv 0.700 0
dbSNP: rs1243762658
rs1243762658
5 0.851 0.160 4 182754413 missense variant C/A;G snv 4.2E-06 7.0E-06 0.700 0
dbSNP: rs1475762618
rs1475762618
1 1.000 0.080 22 45923167 missense variant G/A snv 0.700 0
dbSNP: rs1554110735
rs1554110735
13 0.776 0.200 6 10398693 frameshift variant TT/- delins 0.700 0
dbSNP: rs1569119395
rs1569119395
2 0.925 0.120 22 45949926 stop gained G/A snv 0.700 0
dbSNP: rs370866589
rs370866589
7 0.851 0.120 14 69952261 stop gained C/G;T snv 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs374823079
rs374823079
1 1.000 0.080 11 119341673 missense variant G/A snv 8.5E-05 3.5E-05 0.700 0
dbSNP: rs377669670
rs377669670
2 0.925 0.080 1 47416547 missense variant G/A snv 3.6E-05 6.4E-05 0.700 0
dbSNP: rs587778872
rs587778872
6 0.807 0.200 2 208128231 missense variant G/A;C snv 8.0E-06 0.700 0
dbSNP: rs61753219
rs61753219
64 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
dbSNP: rs724159949
rs724159949
15 0.827 0.240 21 37486563 stop gained C/T snv 0.700 0
dbSNP: rs755000701
rs755000701
5 0.851 0.160 4 182799938 missense variant C/T snv 9.2E-06 1.4E-05 0.700 0
dbSNP: rs755377651
rs755377651
2 0.925 0.080 1 47416625 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs770374710
rs770374710
87 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs869025221
rs869025221
5 0.925 0.080 3 25593603 missense variant G/C snv 0.700 0
dbSNP: rs869025222
rs869025222
9 0.827 0.240 3 25580574 missense variant T/C snv 0.700 0
dbSNP: rs875989805
rs875989805
NHS
4 0.925 0.120 X 17687870 stop gained C/T snv 0.700 0
dbSNP: rs193929392
rs193929392
4 0.851 0.120 X 11118574 missense variant G/A snv 0.010 1.000 1 2007 2007
dbSNP: rs74315439
rs74315439
7 0.790 0.200 21 43172104 missense variant C/A;T snv 0.010 1.000 1 2007 2007
dbSNP: rs121913507
rs121913507
KIT
49 0.614 0.400 4 54733155 missense variant A/T snv 0.010 1.000 1 2008 2008
dbSNP: rs121913682
rs121913682
KIT
52 0.605 0.400 4 54733167 missense variant A/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs200671094
rs200671094
4 0.851 0.080 14 53950508 missense variant G/A;T snv 1.2E-04; 4.0E-06 0.010 < 0.001 1 2009 2009
dbSNP: rs552445199
rs552445199
2 0.925 0.080 18 68711389 missense variant C/T snv 2.9E-05 1.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs80358194
rs80358194
2 0.925 0.080 1 47417035 stop gained C/A snv 1.6E-04 0.010 1.000 1 2010 2010