Source: CURATED ×
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: rs3784709
rs3784709
MAP2K5
1 1.000 0.080 15 67779937 intron variant C/T snv 0.36 0.710 1.000 1 2007 2018
dbSNP: rs4236060
rs4236060
BTBD9
1 1.000 0.080 6 38502311 intron variant C/T snv 0.22 0.700 1.000 1 2007 2007
dbSNP: rs4489954
rs4489954
MAP2K5
1 1.000 0.080 15 67779737 intron variant T/A;G snv 0.710 1.000 1 2007 2018
dbSNP: rs45544231
rs45544231
CASC16
1 1.000 0.080 16 52598818 intron variant G/C;T snv 0.700 1.000 1 2017 2017
dbSNP: rs4626664
rs4626664
PTPRD
1 1.000 0.080 9 9261737 intron variant G/A snv 0.20 0.820 1.000 1 2008 2014
dbSNP: rs4714156
rs4714156
BTBD9
1 0.925 0.120 6 38393336 intron variant C/T snv 0.36 0.700 1.000 1 2007 2007
dbSNP: rs61192259
rs61192259
BTBD9
1 1.000 0.080 6 38486186 intron variant C/A snv 0.50 0.700 1.000 1 2017 2017
dbSNP: rs62535767
rs62535767
PTPRD
1 1.000 0.080 9 9290311 intron variant C/T snv 0.25 0.700 1.000 1 2017 2017
dbSNP: rs6494696
rs6494696 		1 1.000 0.080 15 67810868 downstream gene variant G/A;C snv 0.710 1.000 1 2007 2017
dbSNP: rs6747972
rs6747972 		1 1.000 0.080 2 67843093 intergenic variant A/G snv 0.65 0.810 1.000 1 2011 2011
dbSNP: rs6904723
rs6904723
BTBD9
1 1.000 0.080 6 38468541 intron variant A/C;T snv 0.700 1.000 1 2007 2007
dbSNP: rs6923737
rs6923737
BTBD9
1 1.000 0.080 6 38515788 intron variant T/C snv 0.28 0.700 1.000 1 2007 2007
dbSNP: rs7881785
rs7881785 		1 1.000 0.080 X 42995357 upstream gene variant A/G snv 0.700 1.000 1 2007 2007
dbSNP: rs80319144
rs80319144
CCDC148
1 1.000 0.080 2 158343323 intron variant C/T snv 0.18 0.700 1.000 1 2017 2017
dbSNP: rs868036
rs868036
MAP2K5
1 1.000 0.080 15 67762675 intron variant T/A snv 0.62 0.700 1.000 1 2017 2017
dbSNP: rs9296249
rs9296249
BTBD9
1 0.882 0.120 6 38398065 intron variant T/C snv 0.30 0.820 1.000 1 2007 2017
dbSNP: rs996064
rs996064 		1 1.000 0.080 15 35916797 upstream gene variant A/T snv 3.7E-02 0.700 1.000 1 2017 2017