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: rs1131691049
rs1131691049
SDHB
5 0.882 0.080 1 17054019 start lost T/A snv 0.700 1.000 9 2003 2013
dbSNP: rs1131691055
rs1131691055
SDHB
4 0.925 0.080 1 17044889 splice acceptor variant C/A;T snv 0.700 1.000 2 2009 2010
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.800 1.000 15 2002 2019
dbSNP: rs1186206565
rs1186206565
PECAM1
1 17 64352432 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs1209914140
rs1209914140
SDHB
3 0.925 0.080 1 17022687 frameshift variant -/CGCCTCTGTGAAG delins 4.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs121908585
rs121908585
PDGFRA
9 0.827 0.080 4 54285926 missense variant A/T snv 0.800 0.952 21 2003 2018
dbSNP: rs121908586
rs121908586
PDGFRA
5 1.000 0.080 4 54274869 missense variant T/A;C snv 0.720 1.000 7 2003 2014
dbSNP: rs121913234
rs121913234
KIT
1 4 54727414 splice region variant AAACCCATGTATGAAGTACAGTGGAAG/- delins 0.700 0
dbSNP: rs121913235
rs121913235
KIT
3 0.925 0.080 4 54727437 missense variant T/A;C;G snv 0.730 1.000 9 1999 2018
dbSNP: rs121913262
rs121913262
PDGFRA
1 4 54285925 inframe deletion GACATCATG/- del 0.700 1.000 1 2014 2014
dbSNP: rs121913264
rs121913264
PDGFRA
1 4 54285925 missense variant GA/AT mnv 0.700 1.000 3 2006 2014
dbSNP: rs121913265
rs121913265
PDGFRA
2 4 54285925 missense variant G/T snv 0.700 1.000 2 2012 2014
dbSNP: rs121913267
rs121913267
PDGFRA
1 4 54285928 inframe deletion ATCATGCATGAT/- del 0.700 1.000 1 2014 2014
dbSNP: rs121913269
rs121913269
PDGFRA
1 4 54285921 inframe deletion GAGACA/- delins 0.700 1.000 1 2014 2014
dbSNP: rs121913348
rs121913348
BRAF
20 0.763 0.480 7 140781617 missense variant C/A;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 11 2008 2019
dbSNP: rs121913459
rs121913459
ABL1
25 0.672 0.160 9 130872896 missense variant C/T snv 0.010 < 0.001 1 2019 2019
dbSNP: rs121913506
rs121913506
KIT
24 0.677 0.320 4 54733154 missense variant G/A;C;T snv 0.710 1.000 5 2005 2014
dbSNP: rs121913507
rs121913507
KIT
49 0.614 0.400 4 54733155 missense variant A/T snv 0.020 1.000 2 2007 2014
dbSNP: rs121913509
rs121913509
KIT
2 1.000 0.080 4 54736528 missense variant G/A snv 0.700 1.000 2 2005 2014
dbSNP: rs121913512
rs121913512
KIT
9 0.851 0.120 4 54728055 missense variant A/C;G snv 0.760 1.000 8 2001 2014
dbSNP: rs121913513
rs121913513
KIT
10 0.776 0.120 4 54727495 missense variant T/C snv 0.730 1.000 4 2006 2017
dbSNP: rs121913514
rs121913514
KIT
12 0.763 0.240 4 54733174 missense variant T/A;G snv 0.700 1.000 3 2005 2014
dbSNP: rs121913516
rs121913516
KIT
6 1.000 0.080 4 54729353 missense variant C/T snv 4.0E-06 0.750 1.000 12 2004 2019
dbSNP: rs121913517
rs121913517
KIT
6 0.851 0.120 4 54727444 missense variant T/A;C;G snv 0.850 1.000 16 1998 2017