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: rs1057518083
rs1057518083
21 0.851 0.120 14 101986552 missense variant C/T snv 0.700 0
dbSNP: rs121913589
rs121913589
MPZ
7 0.827 0.200 1 161306863 missense variant C/A;G;T snv 0.700 0
dbSNP: rs267607261
rs267607261
28 0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06 0.700 0
dbSNP: rs368900406
rs368900406
27 0.827 0.160 2 27312255 non coding transcript exon variant A/C snv 8.0E-06 2.1E-05 0.700 0
dbSNP: rs375817528
rs375817528
25 0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04 0.700 0
dbSNP: rs587778779
rs587778779
14 0.807 0.240 2 218814379 splice acceptor variant G/A;T snv 0.700 0
dbSNP: rs773159585
rs773159585
4 0.882 0.080 1 11998877 missense variant C/T snv 8.0E-06 0.700 0
dbSNP: rs879253979
rs879253979
4 0.925 0.120 14 101979951 missense variant C/G;T snv 0.700 0