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: rs730882140
rs730882140
DNAJB2
2 0.925 0.080 2 219279847 missense variant A/G snv 0.800 0
dbSNP: rs369661561
rs369661561
DNAJB2
1 1.000 2 219281937 splice acceptor variant A/G snv 6.0E-05 1.2E-04 0.700 1.000 2 2012 2014
dbSNP: rs756614404
rs756614404
DNAJB2
1 1.000 2 219282062 splice donor variant G/A snv 3.6E-05 2.1E-05 0.700 1.000 2 2012 2016
dbSNP: rs764813110
rs764813110
DNAJB2
1 1.000 2 219284631 splice acceptor variant G/A snv 8.6E-06 2.1E-05 0.700 1.000 1 2015 2015
dbSNP: rs879253868
rs879253868
DNAJB2
1 1.000 2 219282018 frameshift variant C/- delins 7.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs730882139
rs730882139
DNAJB2
2 0.925 0.080 2 219281772 splice donor variant G/A snv 0.700 0
dbSNP: rs758322672
rs758322672
DNAJB2
1 1.000 2 219283131 splice acceptor variant A/G snv 4.0E-06 0.700 0