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: rs774909609
rs774909609
DNAJB5 ; DNAJB5-DT
2 9 34990673 missense variant C/T snv 1.2E-04 1.3E-04 0.700 1.000 1 2015 2015
dbSNP: rs1563221666
rs1563221666
SFTPC
14 0.882 0.120 8 22162694 missense variant C/T snv 0.700 0
dbSNP: rs1114167341
rs1114167341
CRYAB
4 0.882 0.040 11 111908966 missense variant T/C snv 0.010 1.000 1 2017 2017
dbSNP: rs121913002
rs121913002
DES
7 0.851 0.160 2 219425727 missense variant C/A;G;T snv 6.5E-05; 5.6E-04 0.010 1.000 1 2003 2003
dbSNP: rs121913003
rs121913003
DES
6 0.882 0.200 2 219421532 missense variant C/T snv 0.010 1.000 1 2004 2004
dbSNP: rs1471907518
rs1471907518
LMNA
1 1 156137144 frameshift variant -/C delins 0.010 1.000 1 2013 2013
dbSNP: rs28933098
rs28933098
MYH7 ; MHRT
4 0.882 0.160 14 23415021 missense variant G/A;T snv 0.010 1.000 1 2003 2003
dbSNP: rs58013325
rs58013325
LMNA
3 1.000 0.080 1 156137144 frameshift variant -/C delins 0.010 1.000 1 2013 2013
dbSNP: rs59962885
rs59962885
DES
11 0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05 0.010 1.000 1 1998 1998
dbSNP: rs61368398
rs61368398
DES
2 1.000 0.160 2 219421380 missense variant G/A;C;T snv 3.2E-05 0.010 1.000 1 2005 2005