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: rs587777797
rs587777797
CRPPA
1 1.000 7 16421162 missense variant C/A;G snv 0.800 1.000 3 2013 2017
dbSNP: rs1289931198
rs1289931198
CRPPA
1 1.000 7 16376099 missense variant T/C snv 1.4E-05 0.700 1.000 3 2013 2017
dbSNP: rs369219851
rs369219851
CRPPA
1 1.000 7 16406149 missense variant G/A snv 0.700 1.000 3 2013 2017
dbSNP: rs397515396
rs397515396
CRPPA ; CRPPA-AS1
2 0.925 7 16216198 splice acceptor variant C/A;T snv 0.700 1.000 2 2012 2013
dbSNP: rs886041302
rs886041302
CRPPA
2 0.925 7 16421269 frameshift variant -/A delins 1.3E-04 0.700 1.000 2 1990 2012
dbSNP: rs397515398
rs397515398
CRPPA
2 0.925 7 16406316 inframe deletion AAT/- del 1.6E-05 4.9E-05 0.700 1.000 1 1989 1989
dbSNP: rs767978961
rs767978961
CRPPA
2 0.925 7 16406338 splice acceptor variant C/G snv 0.700 1.000 1 2012 2012
dbSNP: rs773325665
rs773325665
CRPPA
2 0.925 7 16301419 splice donor variant A/G snv 1.6E-05 4.9E-05 0.700 1.000 1 2013 2013
dbSNP: rs1554305719
rs1554305719
CRPPA
2 0.925 7 16278176 frameshift variant TATCTTCTTCTGT/- delins 0.700 0
dbSNP: rs587777798
rs587777798
CRPPA ; CRPPA-AS1
2 0.925 7 16258393 inframe insertion ACA/-;ACAACA delins 4.2E-05 0.700 0