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: rs121909044
rs121909044
CFTR
2 0.925 0.200 7 117587812 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1424161711
rs1424161711
MAP3K7
1 1.000 0.080 6 90552092 frameshift variant G/- delins 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs387907272
rs387907272
MYD88
73 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs773027640
rs773027640
ZNF518A ; BLNK
1 1.000 0.080 10 96204059 missense variant G/A snv 4.0E-06 3.5E-05 0.010 1.000 1 2017 2017
dbSNP: rs775241023
rs775241023
PMEL
1 1.000 0.080 12 55957383 missense variant G/A;T snv 4.2E-06; 1.3E-05 0.010 1.000 1 2017 2017