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: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2017 2017
dbSNP: rs121913366
rs121913366
BRAF
12 0.763 0.400 7 140753345 missense variant A/C;T snv 0.720 1.000 14 1989 2017
dbSNP: rs1057519742
rs1057519742
GNA11
7 0.827 0.160 19 3118944 missense variant A/C;T snv 0.750 1.000 9 1989 2018
dbSNP: rs121913337
rs121913337
BRAF
2 0.925 0.200 7 140753353 missense variant A/C;T snv 0.700 1.000 3 2002 2014
dbSNP: rs104894099
rs104894099
CDKN2A
5 0.851 0.200 9 21971183 missense variant A/C;T snv 4.6E-06 0.020 1.000 2 2003 2010
dbSNP: rs1057519703
rs1057519703
KIT
1 1.000 0.040 4 54727418 missense variant A/C;T snv 0.700 1.000 2 2014 2014
dbSNP: rs4785763
rs4785763
AFG3L1P
3 0.925 0.120 16 90000528 non coding transcript exon variant A/C;T snv 0.800 1.000 2 2009 2017
dbSNP: rs121913341
rs121913341
BRAF
5 0.851 0.280 7 140753350 missense variant A/C;T snv 0.700 1.000 1 2014 2014
dbSNP: rs1990330
rs1990330
TEAD4
2 0.925 0.080 12 3038296 intron variant A/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs7041
rs7041
GC
64 0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs8192284
rs8192284
IL6R
19 0.724 0.720 1 154454494 missense variant A/C;T snv 0.010 1.000 1 2008 2008
dbSNP: rs993022333
rs993022333
KIT
5 0.851 0.080 4 54733173 missense variant A/C;T snv 0.700 1.000 1 2011 2011
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.050 1.000 5 2009 2016
dbSNP: rs7023329
rs7023329
MTAP
9 0.790 0.160 9 21816529 intron variant A/G snv 0.50 0.810 1.000 5 2009 2017
dbSNP: rs1024708183
rs1024708183
MAP2K7
4 0.925 0.040 19 7909761 missense variant A/G snv 0.020 1.000 2 2005 2015
dbSNP: rs1057519705
rs1057519705
KIT
1 1.000 0.040 4 54727464 missense variant A/G snv 0.700 1.000 2 2014 2014
dbSNP: rs13016963
rs13016963
FLACC1
5 0.851 0.080 2 201298088 intron variant A/G snv 0.59 0.800 1.000 2 2011 2017
dbSNP: rs2284063
rs2284063
PLA2G6
4 0.851 0.160 22 38148291 non coding transcript exon variant A/G snv 0.40 0.800 1.000 2 2009 2017
dbSNP: rs4444903
rs4444903
EGF
35 0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51 0.020 0.500 2 2013 2015
dbSNP: rs1060502550
rs1060502550
KIT
1 1.000 0.040 4 54727488 missense variant A/G snv 0.010 < 0.001 1 2011 2011
dbSNP: rs10816595
rs10816595 		4 0.851 0.080 9 107947454 regulatory region variant A/G snv 0.33 0.010 1.000 1 2019 2019
dbSNP: rs1136410
rs1136410
PARP1
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 1.000 1 2006 2006
dbSNP: rs11568953
rs11568953
EGF
1 1.000 0.040 4 109963240 synonymous variant A/G snv 9.7E-03 1.0E-02 0.010 1.000 1 2017 2017
dbSNP: rs11648898
rs11648898
AFG3L1P
1 1.000 0.040 16 89979578 non coding transcript exon variant A/G snv 0.17 0.700 1.000 1 2011 2011
dbSNP: rs1176796243
rs1176796243
MITF
1 1.000 0.040 3 69941240 missense variant A/G snv 0.010 1.000 1 2014 2014