Gene: PCARE ×
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: rs267606691
rs267606691
PCARE
2 0.925 0.080 2 29073706 stop gained G/A;C;T snv 8.0E-06; 4.8E-05 0.710 1.000 1 2010 2010
dbSNP: rs367658438
rs367658438
PCARE
1 1.000 0.080 2 29071260 stop gained C/G;T snv 2.0E-05; 4.8E-05 0.700 1.000 1 2011 2011
dbSNP: rs863223344
rs863223344
PCARE
1 1.000 0.080 2 29073550 stop gained T/A snv 0.700 1.000 1 2015 2015
dbSNP: rs527236055
rs527236055
PCARE
1 1.000 0.080 2 29072136 frameshift variant C/- delins 0.700 0
dbSNP: rs527236056
rs527236056
PCARE
1 1.000 0.080 2 29071273 frameshift variant -/G delins 0.700 0
dbSNP: rs794728002
rs794728002
PCARE
2 0.925 0.080 2 29071494 frameshift variant AGGGCTGGCTTCC/- delins 0.700 0
dbSNP: rs267606690
rs267606690
PCARE
2 0.925 0.080 2 29073661 missense variant T/A;C snv 4.0E-06; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs750987123
rs750987123
PCARE
2 1.000 0.080 2 29073504 stop gained C/T snv 4.0E-06 0.010 1.000 1 2010 2010