Gene: PCDH15 ×
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: rs1057516342
rs1057516342
PCDH15
3 0.925 0.200 10 53995732 stop gained G/A;C snv 8.0E-06 0.700 0
dbSNP: rs137853001
rs137853001
PCDH15
3 0.925 0.200 10 54664256 stop gained G/A snv 2.0E-05 7.0E-06 0.700 0
dbSNP: rs1554883705
rs1554883705
PCDH15
3 0.925 0.200 10 53961893 splice acceptor variant C/A snv 0.700 0
dbSNP: rs1564949059
rs1564949059
PCDH15
2 1.000 0.120 10 54317359 missense variant G/T snv 0.700 0