Gene: PDZD7 ×
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: rs148695069
rs148695069
PDZD7
1 1.000 10 101023988 missense variant C/A;G;T snv 8.0E-06; 1.6E-05; 2.8E-05 0.800 1.000 4 2009 2018
dbSNP: rs1554835827
rs1554835827
PDZD7
1 1.000 10 101021811 missense variant A/C snv 0.800 1.000 4 2009 2018
dbSNP: rs753034799
rs753034799
PDZD7
1 1.000 10 101022246 missense variant C/T snv 8.0E-06 1.4E-05 0.800 1.000 4 2009 2018
dbSNP: rs953422571
rs953422571
PDZD7
1 1.000 10 101018121 stop gained G/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs1554834161
rs1554834161
PDZD7
1 1.000 10 101015737 stop gained G/A snv 0.700 0
dbSNP: rs1554834186
rs1554834186
PDZD7
1 1.000 10 101015809 stop gained G/A snv 0.700 0
dbSNP: rs1554835103
rs1554835103
PDZD7
1 1.000 10 101018939 frameshift variant G/- delins 0.700 0
dbSNP: rs397516633
rs397516633
PDZD7
1 1.000 10 101010782 frameshift variant T/- delins 3.1E-04 2.7E-04 0.700 0
dbSNP: rs587776894
rs587776894
PDZD7 ; SFXN3
2 0.925 0.200 10 101030053 frameshift variant -/G delins 6.3E-05 0.700 0