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: rs4699052
rs4699052 		3 0.925 0.200 4 103216633 intergenic variant C/T snv 0.44 0.700 1.000 1 2009 2009
dbSNP: rs4862848
rs4862848
ZFP42
1 1.000 0.120 4 188000286 intron variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs4931000
rs4931000
RESF1
1 1.000 0.120 12 31988561 intron variant A/G snv 0.78 0.700 1.000 1 2017 2017
dbSNP: rs55873183
rs55873183
DMRT1
1 1.000 0.120 9 878563 intron variant A/G snv 4.4E-02 0.700 1.000 1 2017 2017
dbSNP: rs56046484
rs56046484
PDE8A
1 1.000 0.120 15 85062196 intron variant G/A;C;T snv 0.700 1.000 1 2017 2017
dbSNP: rs58521262
rs58521262
LINC01859
1 1.000 0.120 19 23022382 intron variant G/A snv 0.14 0.700 1.000 1 2017 2017
dbSNP: rs60180747
rs60180747
TIPIN
1 1.000 0.120 15 66370923 intron variant A/C snv 0.22 0.700 1.000 1 2017 2017
dbSNP: rs61408740
rs61408740
LHPP
1 1.000 0.120 10 124586043 intron variant C/G snv 8.5E-02 0.700 1.000 1 2017 2017
dbSNP: rs648090
rs648090
PKNOX2
1 1.000 0.120 11 125201267 intron variant A/G snv 0.71 0.700 1.000 1 2017 2017
dbSNP: rs6821144
rs6821144
CDKL2
1 1.000 0.120 4 75595467 intron variant G/A snv 0.16 0.700 1.000 1 2017 2017
dbSNP: rs6837349
rs6837349
ZFP42
1 1.000 0.120 4 188000201 intron variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs73019876
rs73019876
ZNF257
1 1.000 0.120 19 22085047 intron variant T/G snv 0.52 0.700 1.000 1 2017 2017
dbSNP: rs7315956
rs7315956
PRANCR
1 1.000 0.120 12 70170085 intron variant A/G snv 0.66 0.700 1.000 1 2017 2017
dbSNP: rs739525
rs739525
AIFM3
1 1.000 0.120 22 20978152 intron variant T/C snv 0.50 0.700 1.000 1 2017 2017
dbSNP: rs7404843
rs7404843
BMERB1
1 1.000 0.120 16 15436851 intron variant T/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs7581030
rs7581030
ZNF638
1 1.000 0.120 2 71345325 intron variant C/G;T snv 0.700 1.000 1 2017 2017
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: rs9966612
rs9966612
CLUL1 ; TYMSOS
1 1.000 0.120 18 649311 intron variant A/C;G snv 0.700 1.000 1 2017 2017
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: 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: rs11202586
rs11202586 		1 1.000 0.120 10 87852267 intergenic variant T/C snv 0.18 0.010 1.000 1 2013 2013
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