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: rs10734650
rs10734650
SBF2
2 0.925 0.080 11 9820944 intron variant C/T snv 0.83 0.700 1.000 1 2018 2018
dbSNP: rs11273543
rs11273543 		2 0.925 0.080 21 22419777 intron variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs11640018
rs11640018
CFDP1
2 0.925 0.080 16 75294410 intron variant T/C snv 0.31 0.700 1.000 1 2018 2018
dbSNP: rs118177209
rs118177209
LOC105378178
2 0.925 0.080 14 49070901 non coding transcript exon variant C/T snv 2.3E-04 0.700 1.000 1 2018 2018
dbSNP: rs11869363
rs11869363
RNF213
2 0.925 0.080 17 80292960 intron variant A/G snv 0.42 0.700 1.000 1 2018 2018
dbSNP: rs1535045
rs1535045
CD40
12 0.742 0.360 20 46119460 intron variant C/A;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs16861137
rs16861137
RAPGEF4
2 0.925 0.080 2 172994952 intron variant G/A snv 4.1E-02 0.700 1.000 1 2018 2018
dbSNP: rs16862676
rs16862676
TSC22D2
2 0.925 0.080 3 150461152 3 prime UTR variant C/T snv 0.10 0.700 1.000 1 2018 2018
dbSNP: rs201661014
rs201661014
DOCK9
2 0.925 0.080 13 99056316 intron variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs2071213
rs2071213
MYRF
2 0.925 0.080 11 61766538 non coding transcript exon variant C/T snv 0.37 0.700 1.000 1 2018 2018
dbSNP: rs2107595
rs2107595 		15 0.732 0.280 7 19009765 regulatory region variant G/A snv 0.19 0.710 1.000 1 2018 2018
dbSNP: rs2262994
rs2262994
NLN
2 0.925 0.080 5 65805135 intron variant A/G snv 0.27 0.700 1.000 1 2018 2018
dbSNP: rs2273291
rs2273291
PLOD1
2 0.925 0.080 1 11965296 intron variant T/C snv 0.58 0.700 1.000 1 2018 2018
dbSNP: rs3025058
rs3025058
MMP3
26 0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04 0.010 < 0.001 1 2013 2013
dbSNP: rs3735925
rs3735925
FBXO25
2 0.925 0.080 8 453304 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs3828610
rs3828610
PDGFRB
3 0.882 0.160 5 150156062 upstream gene variant A/C snv 0.49 0.010 < 0.001 1 2013 2013
dbSNP: rs387906592
rs387906592
ACTA2 ; STAMBPL1
14 0.752 0.280 10 88941309 missense variant C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2014 2014
dbSNP: rs4759277
rs4759277
LRP1
12 0.752 0.160 12 57139907 intron variant C/A snv 0.38 0.700 1.000 1 2018 2018
dbSNP: rs476382
rs476382 		2 0.925 0.080 18 22525019 intergenic variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs4813003
rs4813003 		3 0.882 0.160 20 46134645 downstream gene variant C/A;T snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs4969426
rs4969426
RPTOR
2 0.925 0.080 17 80789008 intron variant A/T snv 0.66 0.700 1.000 1 2018 2018
dbSNP: rs61404834
rs61404834 		2 0.925 0.080 20 12752232 intergenic variant C/T snv 0.26 0.700 1.000 1 2018 2018
dbSNP: rs681239
rs681239 		2 0.925 0.080 1 227951971 upstream gene variant A/G snv 0.73 0.700 1.000 1 2018 2018
dbSNP: rs6958010
rs6958010
JAZF1
2 0.925 0.080 7 28099020 intron variant T/G snv 0.79 0.700 1.000 1 2018 2018