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: rs401618
rs401618
HLA-A
5 0.827 0.120 6 29982433 downstream gene variant A/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs6475552
rs6475552
LOC107987026
1 1.000 0.040 9 21701675 downstream gene variant G/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs6673928
rs6673928 		1 1.000 0.040 1 206763900 downstream gene variant G/T snv 0.20 0.010 1.000 1 2016 2016
dbSNP: rs7335046
rs7335046 		7 0.807 0.040 13 99389484 downstream gene variant G/C snv 0.80 0.010 1.000 1 2011 2011
dbSNP: rs7848524
rs7848524
LOC107987026
1 1.000 0.040 9 21701433 downstream gene variant T/A;C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs36115365
rs36115365 		7 0.807 0.160 5 1313127 upstream gene variant G/A;C;T snv 0.020 1.000 2 2017 2019
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.010 1.000 1 2017 2017
dbSNP: rs2127675
rs2127675 		1 1.000 0.040 6 32883073 upstream gene variant A/G snv 0.36 0.010 < 0.001 1 2013 2013
dbSNP: rs361525
rs361525
TNF
62 0.562 0.760 6 31575324 upstream gene variant G/A snv 4.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs3834129
rs3834129
CASP8
38 0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 0.010 1.000 1 2008 2008
dbSNP: rs4785752
rs4785752 		2 1.000 0.040 16 89968733 upstream gene variant A/G snv 0.42 0.700 1.000 1 2011 2011
dbSNP: rs4950928
rs4950928
CHI3L1
33 0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs7033503
rs7033503 		1 1.000 0.040 9 21799599 upstream gene variant T/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs721970
rs721970 		1 1.000 0.040 20 33315727 upstream gene variant A/G snv 0.96 0.700 1.000 1 2008 2008
dbSNP: rs121913226
rs121913226
BRAF
1 1.000 0.040 7 140753332 inframe deletion TTT/- del 0.700 1.000 1 2014 2014
dbSNP: rs121913416
rs121913416
CTNNB1
1 1.000 0.040 3 41224575 inframe deletion TTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG/- delins 0.700 1.000 1 2014 2014
dbSNP: rs121913417
rs121913417
CTNNB1
1 1.000 0.040 3 41224583 inframe deletion GGCAGCAACAGTCTTACCTGGACT/- delins 0.700 1.000 1 2014 2014
dbSNP: rs121913685
rs121913685
KIT
4 0.882 0.080 4 54727443 inframe deletion TTGTTG/-;TTG delins 0.700 1.000 1 2014 2014
dbSNP: rs10735810
rs10735810
VDR
26 0.662 0.640 12 47879112 start lost A/C;G;T snv 0.010 1.000 1 2009 2009
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: rs193922219
rs193922219
FBN1
9 0.763 0.280 15 48446701 splice region variant C/A;T snv 0.700 0
dbSNP: rs11263498
rs11263498 		1 1.000 0.040 11 69567999 TF binding site variant T/C snv 0.51 0.700 1.000 1 2011 2011
dbSNP: rs5759167
rs5759167 		4 0.851 0.160 22 43104206 TF binding site variant G/T snv 0.40 0.010 1.000 1 2011 2011
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.100 0.900 10 2006 2017
dbSNP: rs1231071385
rs1231071385
ATF2
1 1.000 0.040 2 175093177 frameshift variant -/G ins 0.010 1.000 1 2010 2010