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: rs1057521256
rs1057521256
PCDH19
1 1.000 0.200 X 100406783 stop gained G/A;C snv 0.700 0
dbSNP: rs1060502175
rs1060502175
PCDH19
1 1.000 0.200 X 100402799 frameshift variant T/- delins 0.700 0
dbSNP: rs1060502176
rs1060502176
PCDH19
1 1.000 0.200 X 100407891 missense variant G/A;C snv 0.700 0
dbSNP: rs1131691646
rs1131691646
PCDH19
1 1.000 0.200 X 100407077 frameshift variant G/-;GG delins 0.700 1.000 2 2010 2012
dbSNP: rs132630323
rs132630323
PCDH19
1 1.000 0.200 X 100407276 missense variant A/T snv 0.800 0
dbSNP: rs132630324
rs132630324
PCDH19
1 1.000 0.200 X 100408345 stop gained G/A snv 0.700 0
dbSNP: rs132630325
rs132630325
PCDH19
1 1.000 0.200 X 100406586 stop gained G/C 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: rs1555984453
rs1555984453
PCDH19
1 1.000 0.200 X 100402687 frameshift variant T/- del 0.700 1.000 1 2011 2011
dbSNP: rs1555985105
rs1555985105
PCDH19
1 1.000 0.200 X 100407043 stop gained G/A snv 0.700 0
dbSNP: rs1555985163
rs1555985163
PCDH19
1 1.000 0.200 X 100407150 frameshift variant CCAGGTC/- delins 0.700 0
dbSNP: rs1555985416
rs1555985416
PCDH19
1 1.000 0.200 X 100407718 frameshift variant -/GGTCG delins 0.700 0
dbSNP: rs1555985448
rs1555985448
PCDH19
1 1.000 0.200 X 100407813 missense variant G/T snv 0.700 1.000 12 2008 2016
dbSNP: rs1555985475
rs1555985475
PCDH19
1 1.000 0.200 X 100407897 missense variant T/C snv 0.700 1.000 12 2008 2016
dbSNP: rs1555985543
rs1555985543
PCDH19
1 1.000 0.200 X 100407979 frameshift variant G/- delins 0.700 0
dbSNP: rs1555985639
rs1555985639
PCDH19
1 1.000 0.200 X 100408108 stop gained GC/AT mnv 0.700 0
dbSNP: rs1555985780
rs1555985780
PCDH19
1 1.000 0.200 X 100408330 missense variant C/G snv 0.700 0
dbSNP: rs1555985820
rs1555985820
PCDH19
1 1.000 0.200 X 100408459 stop gained GC/AA mnv 0.700 0
dbSNP: rs1569314152
rs1569314152
PCDH19
1 1.000 0.200 X 100406567 frameshift variant -/A delins 0.700 0
dbSNP: rs1569314475
rs1569314475
PCDH19
1 1.000 0.200 X 100406922 frameshift variant T/- delins 0.700 0
dbSNP: rs1569314809
rs1569314809
PCDH19
1 1.000 0.200 X 100407256 missense variant C/A snv 0.700 0
dbSNP: rs1569315042
rs1569315042
PCDH19
1 1.000 0.200 X 100407476 frameshift variant GA/- delins 0.700 0
dbSNP: rs1569315156
rs1569315156
PCDH19
1 1.000 0.200 X 100407604 frameshift variant C/- delins 0.700 0
dbSNP: rs1569315169
rs1569315169
PCDH19
1 1.000 0.200 X 100407627 frameshift variant T/- delins 0.700 0
dbSNP: rs1569315231
rs1569315231
PCDH19
1 1.000 0.200 X 100407680 stop gained G/C snv 0.700 1.000 1 2016 2016