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: rs12203592
rs12203592
IRF4
38 0.649 0.320 6 396321 intron variant C/T snv 0.10 0.700 1.000 2 2016 2017
dbSNP: rs9282858
rs9282858
SRD5A2
16 0.716 0.320 2 31580756 missense variant C/T snv 1.8E-02 2.1E-02 0.700 1.000 1 2016 2016
dbSNP: rs6152
rs6152
AR
9 0.763 0.240 X 67545785 synonymous variant G/A snv 0.15 0.28 0.010 1.000 1 2015 2015
dbSNP: rs28934608
rs28934608
F11
3 0.925 0.160 4 186280333 missense variant C/T snv 2.4E-05 2.1E-05 0.010 1.000 1 1999 1999
dbSNP: rs3827760
rs3827760
RANBP2 ; EDAR
11 0.752 0.160 2 108897145 missense variant A/G snv 0.15 5.9E-02 0.700 1.000 1 2016 2016
dbSNP: rs12373124
rs12373124
SPPL2C ; MAPT-AS1
9 0.790 0.120 17 45846853 synonymous variant T/C snv 0.15 0.14 0.700 1.000 1 2012 2012
dbSNP: rs5934505
rs5934505 		10 0.776 0.120 X 8945785 intergenic variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs919462
rs919462
MAPT
7 0.807 0.120 17 45988374 intron variant C/T snv 0.15 0.700 1.000 1 2017 2017
dbSNP: rs11037975
rs11037975 		7 0.807 0.080 11 44389312 intergenic variant C/A;G snv 0.700 1.000 2 2016 2017
dbSNP: rs11593840
rs11593840
LRMDA
7 0.807 0.080 10 76436854 intron variant A/G snv 0.40 0.700 1.000 2 2016 2017
dbSNP: rs1160312
rs1160312
LINC01432
7 0.807 0.080 20 22069865 intron variant A/G snv 0.55 0.720 1.000 2 2008 2013
dbSNP: rs11684254
rs11684254 		7 0.807 0.080 2 238787252 downstream gene variant C/G snv 0.44 0.700 1.000 2 2016 2017
dbSNP: rs13405699
rs13405699 		7 0.807 0.080 2 173740905 intergenic variant C/A;G;T snv 0.700 1.000 2 2016 2017
dbSNP: rs2180439
rs2180439 		7 0.807 0.080 20 21872462 intergenic variant C/T snv 0.58 0.700 1.000 2 2008 2011
dbSNP: rs2497938
rs2497938 		7 0.807 0.080 X 67343176 intergenic variant T/C snv 0.37 0.700 1.000 2 2011 2012
dbSNP: rs68088846
rs68088846
RUNX1 ; LOC102724584
7 0.807 0.080 21 34835870 intron variant G/A snv 0.27 0.700 1.000 2 2016 2017
dbSNP: rs7642536
rs7642536
MRPS22
7 0.807 0.080 3 139313491 intron variant T/C snv 0.12 0.700 1.000 2 2016 2017
dbSNP: rs76972608
rs76972608 		7 0.807 0.080 12 130078818 intergenic variant A/T snv 0.13 0.700 1.000 2 2016 2017
dbSNP: rs10502861
rs10502861
SLC14A2
7 0.807 0.080 18 45220183 intron variant C/T snv 0.32 0.700 1.000 1 2012 2012
dbSNP: rs10888690
rs10888690
FAF1
7 0.807 0.080 1 50494849 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs10930758
rs10930758 		7 0.807 0.080 2 176897100 intergenic variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs11087368
rs11087368
LINC01432
6 0.827 0.080 20 22057342 intron variant T/-;TT;TTT;TTTT delins 0.700 1.000 1 2017 2017
dbSNP: rs111668293
rs111668293
TBX15
7 0.807 0.080 1 118896200 intron variant G/- del 0.12 0.700 1.000 1 2017 2017
dbSNP: rs111763724
rs111763724 		6 0.827 0.080 X 57975900 intergenic variant A/G snv 7.8E-02 0.700 1.000 1 2016 2016
dbSNP: rs11249243
rs11249243 		6 0.827 0.080 1 25021086 upstream gene variant C/T snv 8.9E-02 0.700 1.000 1 2017 2017