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: 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: 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: 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: 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: 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: 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: rs755383
rs755383
DMRT1
7 0.807 0.120 9 863635 intron variant C/T snv 0.54 0.800 1.000 3 2013 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: 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: 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: 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: 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: 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: 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: rs7107174
rs7107174
GAB2
1 1.000 0.120 11 78286890 intron variant C/G;T snv 0.710 1.000 1 2015 2015
dbSNP: rs17153755
rs17153755
GATA4
1 1.000 0.120 8 11753991 intron variant C/G snv 0.34 0.700 1.000 1 2017 2017
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: rs3755605
rs3755605
GPR160
1 1.000 0.120 3 170038331 non coding transcript exon variant C/T snv 0.46 0.700 1.000 1 2017 2017
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: rs7501939
rs7501939
HNF1B
12 0.776 0.280 17 37741165 intron variant C/T snv 0.41 0.700 1.000 3 2015 2017
dbSNP: rs17021463
rs17021463
HPGDS
2 1.000 0.120 4 94303661 intron variant T/G snv 0.57 0.800 1.000 3 2013 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: 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: rs11155671
rs11155671
KATNA1
1 1.000 0.120 6 149650996 upstream gene variant G/A snv 0.46 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