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: rs1057519713
rs1057519713
KIT
3 0.925 0.120 4 54736498 missense variant G/C snv 0.700 0
dbSNP: rs121913514
rs121913514
KIT
12 0.763 0.240 4 54733174 missense variant T/A;G snv 0.700 0
dbSNP: rs757545210
rs757545210
STK10
1 1.000 0.120 5 172105697 missense variant T/C snv 0.700 0
dbSNP: rs137853078
rs137853078
STK11
3 0.925 0.120 19 1220396 missense variant G/A snv 0.700 1.000 3 1998 2008
dbSNP: rs1355972653
rs1355972653
IFNGR2
3 0.882 0.120 21 33415009 synonymous variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs745738344
rs745738344
TNF
28 0.653 0.600 6 31576786 synonymous variant G/A snv 1.6E-05 1.4E-05 0.010 1.000 1 2007 2007
dbSNP: rs4624820
rs4624820 		5 0.851 0.240 5 142302223 regulatory region variant G/A snv 0.55 0.810 1.000 6 2009 2017
dbSNP: rs210138
rs210138
BAK1 ; GGNBP1
5 0.851 0.240 6 33574761 intron variant A/G snv 0.19 0.800 1.000 5 2009 2017
dbSNP: rs995030
rs995030
KITLG
9 0.776 0.320 12 88496894 3 prime UTR variant A/G snv 0.67 0.720 1.000 5 2009 2019
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2009 2009
dbSNP: rs4699052
rs4699052 		3 0.925 0.200 4 103216633 intergenic variant C/T snv 0.44 0.700 1.000 1 2009 2009
dbSNP: rs78311289
rs78311289
FGFR3
25 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.700 1.000 1 2009 2009
dbSNP: rs11205
rs11205
HSD17B4
1 1.000 0.120 5 119526018 missense variant A/G snv 0.42 0.41 0.010 1.000 1 2010 2010
dbSNP: rs143384
rs143384
GDF5
17 0.827 0.200 20 35437976 5 prime UTR variant G/A snv 0.44 0.010 1.000 1 2011 2011
dbSNP: rs6060373
rs6060373
UQCC1
4 0.925 0.200 20 35326405 intron variant A/G snv 0.49 0.010 1.000 1 2011 2011
dbSNP: rs10137185
rs10137185
ESR2
2 0.925 0.200 14 64309058 intron variant C/T snv 0.17 0.010 1.000 1 2012 2012
dbSNP: rs10146204
rs10146204 		2 1.000 0.120 14 64352051 non coding transcript exon variant G/A snv 0.45 0.010 1.000 1 2012 2012
dbSNP: rs12434245
rs12434245
ESR2 ; SYNE2
1 1.000 0.120 14 64225135 intron variant C/T snv 5.6E-02 0.010 1.000 1 2012 2012
dbSNP: rs12435857
rs12435857
ESR2
3 0.925 0.200 14 64256807 intron variant G/A snv 0.41 0.010 1.000 1 2012 2012
dbSNP: rs2414099
rs2414099
CYP19A1 ; MIR4713HG
1 1.000 0.120 15 51256585 intron variant C/T snv 0.83 0.010 1.000 1 2012 2012
dbSNP: rs2978381
rs2978381
ESR2
3 0.925 0.160 14 64299934 intron variant T/C snv 0.53 0.010 1.000 1 2012 2012
dbSNP: rs3751592
rs3751592
CYP19A1 ; MIR7973-2 ; MIR7973-1
2 0.925 0.200 15 51314381 intron variant T/C snv 0.31 0.010 1.000 1 2012 2012
dbSNP: rs4471514
rs4471514
VEZT
1 1.000 0.120 12 95273561 intron variant C/T snv 0.48 0.010 1.000 1 2012 2012
dbSNP: rs8025374
rs8025374
CYP19A1 ; MIR4713HG
1 1.000 0.120 15 51226173 intron variant T/C;G snv 0.010 1.000 1 2012 2012
dbSNP: rs10510452
rs10510452 		2 1.000 0.120 3 16583541 downstream gene variant A/G snv 0.22 0.800 1.000 4 2013 2017