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: rs1569314152
rs1569314152
PCDH19
1 1.000 0.200 X 100406567 frameshift variant -/A delins 0.700 0
dbSNP: rs779136255
rs779136255
PCDH19
1 1.000 0.200 X 100403522 coding sequence variant -/CTCTTTCCCCTTAGGCTCACTTTCTCC delins 5.8E-06 1.9E-05 0.700 1.000 1 2011 2011
dbSNP: rs1555985416
rs1555985416
PCDH19
1 1.000 0.200 X 100407718 frameshift variant -/GGTCG delins 0.700 0
dbSNP: rs746274631
rs746274631
PCDH19
1 1.000 0.200 X 100407981 missense variant A/C snv 1.1E-05 5.6E-05 0.700 0
dbSNP: rs132630323
rs132630323
PCDH19
1 1.000 0.200 X 100407276 missense variant A/T snv 0.800 0
dbSNP: rs1569315156
rs1569315156
PCDH19
1 1.000 0.200 X 100407604 frameshift variant C/- delins 0.700 0
dbSNP: rs1569314809
rs1569314809
PCDH19
1 1.000 0.200 X 100407256 missense variant C/A snv 0.700 0
dbSNP: rs132630326
rs132630326
PCDH19
1 1.000 0.200 X 100408456 stop gained C/A;T snv 0.700 0
dbSNP: rs1555985780
rs1555985780
PCDH19
1 1.000 0.200 X 100408330 missense variant C/G snv 0.700 0
dbSNP: rs753757730
rs753757730
PCDH19
1 1.000 0.200 X 100408027 missense variant C/G;T snv 5.6E-06; 5.6E-06 0.700 1.000 12 2008 2016
dbSNP: rs796052795
rs796052795
PCDH19
1 1.000 0.200 X 100408237 missense variant C/G;T snv 0.700 0
dbSNP: rs796052828
rs796052828
PCDH19
1 1.000 0.200 X 100407536 frameshift variant CACT/- delins 0.700 0
dbSNP: rs1555985163
rs1555985163
PCDH19
1 1.000 0.200 X 100407150 frameshift variant CCAGGTC/- delins 0.700 0
dbSNP: rs1555985543
rs1555985543
PCDH19
1 1.000 0.200 X 100407979 frameshift variant G/- delins 0.700 0
dbSNP: rs758946412
rs758946412
PCDH19
12 0.790 0.240 X 100407507 frameshift variant G/-;GG delins 0.700 1.000 6 2008 2017
dbSNP: rs1131691646
rs1131691646
PCDH19
1 1.000 0.200 X 100407077 frameshift variant G/-;GG delins 0.700 1.000 2 2010 2012
dbSNP: rs132630324
rs132630324
PCDH19
1 1.000 0.200 X 100408345 stop gained G/A snv 0.700 0
dbSNP: rs1555985105
rs1555985105
PCDH19
1 1.000 0.200 X 100407043 stop gained G/A snv 0.700 0
dbSNP: rs796052812
rs796052812
PCDH19
1 1.000 0.200 X 100407484 missense variant G/A snv 0.700 0
dbSNP: rs797045873
rs797045873
PCDH19
1 1.000 0.200 X 100408108 stop gained G/A snv 0.700 0
dbSNP: rs267606933
rs267606933
PCDH19
1 1.000 0.200 X 100406927 missense variant G/A;C snv 0.800 1.000 12 2008 2016
dbSNP: rs1057521256
rs1057521256
PCDH19
1 1.000 0.200 X 100406783 stop gained G/A;C snv 0.700 0
dbSNP: rs1060502176
rs1060502176
PCDH19
1 1.000 0.200 X 100407891 missense variant G/A;C snv 0.700 0
dbSNP: rs201989363
rs201989363
PCDH19
1 1.000 0.200 X 100406898 missense variant G/A;C;T snv 4.4E-05 0.800 1.000 12 2008 2016
dbSNP: rs769967221
rs769967221
PCDH19
1 1.000 0.200 X 100407415 stop gained G/A;T snv 0.700 1.000 1 2012 2012