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: 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: rs7040024
rs7040024
DMRT1
4 0.925 0.120 9 845516 intron variant A/C;G snv 0.700 1.000 2 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: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2020 2020
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: rs10510452
rs10510452 		2 1.000 0.120 3 16583541 downstream gene variant A/G snv 0.22 0.800 1.000 4 2013 2017
dbSNP: rs2072499
rs2072499
SLC25A44
3 1.000 0.120 1 156199819 non coding transcript exon variant A/G snv 0.34 0.43 0.800 1.000 4 2013 2017
dbSNP: rs2720460
rs2720460
CENPE
2 1.000 0.120 4 103133529 intron variant A/G snv 0.35 0.800 1.000 4 2013 2017
dbSNP: rs11071896
rs11071896
ZWILCH
2 1.000 0.120 15 66528912 missense variant A/G snv 0.23 0.20 0.700 1.000 1 2017 2017
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: rs12228415
rs12228415
ATF7IP
1 1.000 0.120 12 14367767 intron variant A/G snv 0.41 0.010 1.000 1 2017 2017
dbSNP: rs1267543
rs1267543
TEX14 ; LOC107985048
1 1.000 0.120 17 58579263 intron variant A/G snv 0.78 0.700 1.000 1 2013 2013
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: rs3805663
rs3805663
PITX1
2 1.000 0.120 5 135030510 intron variant A/G snv 0.49 0.700 1.000 1 2013 2013
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: 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: 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: rs7221274
rs7221274
PPM1E
1 1.000 0.120 17 58930767 intron variant A/G snv 0.38 0.710 1.000 1 2013 2013
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: rs4561483
rs4561483
BCAR4
1 1.000 0.120 16 11826180 intron variant A/G;T snv 0.710 1.000 3 2015 2017
dbSNP: rs8046148
rs8046148 		2 1.000 0.120 16 50109033 intron variant A/G;T snv 0.800 1.000 3 2013 2017
dbSNP: rs4862848
rs4862848
ZFP42
1 1.000 0.120 4 188000286 intron variant A/G;T snv 0.700 1.000 1 2017 2017