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: rs121908160
rs121908160
KIF1B
4 0.882 0.080 1 10258602 missense variant A/T snv 0.700 0
dbSNP: rs121918312
rs121918312
BAG3
11 0.776 0.160 10 119672373 missense variant C/A;T snv 0.700 0
dbSNP: rs137852667
rs137852667
IGHMBP2
3 0.882 0.120 11 68935404 missense variant G/A snv 4.4E-05 0.700 0
dbSNP: rs1555937009
rs1555937009
GJB1
1 1.000 0.080 X 71223757 missense variant C/G snv 0.700 0
dbSNP: rs267607143
rs267607143
TRPV4
5 0.851 0.080 12 109798823 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs267607144
rs267607144
TRPV4
17 0.716 0.360 12 109800665 missense variant C/T snv 0.700 0
dbSNP: rs267607145
rs267607145
TRPV4
4 0.882 0.080 12 109798820 missense variant G/A;T snv 0.700 0
dbSNP: rs267607146
rs267607146
TRPV4
5 0.851 0.080 12 109800666 missense variant G/A;T snv 7.0E-06 0.700 0
dbSNP: rs372000714
rs372000714
IGHMBP2
3 0.882 0.120 11 68906120 stop gained T/A snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs57318642
rs57318642
LMNA
4 0.851 0.200 1 156137203 missense variant C/T snv 1.4E-05 1.4E-05 0.700 0
dbSNP: rs60864230
rs60864230
LMNA
7 0.790 0.280 1 156130658 missense variant G/A;C;T snv 4.0E-06 0.700 0
dbSNP: rs690016543
rs690016543
SBF1
2 0.925 0.080 22 50465006 missense variant C/T snv 0.700 0
dbSNP: rs724159958
rs724159958
IGHMBP2
2 0.925 0.080 11 68911496 missense variant T/G snv 0.700 0
dbSNP: rs724159994
rs724159994
IGHMBP2
3 0.882 0.120 11 68939658 frameshift variant AG/- delins 0.700 0
dbSNP: rs730882139
rs730882139
DNAJB2
2 0.925 0.080 2 219281772 splice donor variant G/A snv 0.700 0
dbSNP: rs730882140
rs730882140
DNAJB2
2 0.925 0.080 2 219279847 missense variant A/G snv 0.700 0
dbSNP: rs756880678
rs756880678
LRSAM1
2 0.925 0.080 9 127501009 splice acceptor variant G/A snv 2.0E-05 2.8E-05 0.700 0
dbSNP: rs781249411
rs781249411
MARS1
2 0.925 0.080 12 57515926 missense variant C/A snv 3.6E-05 0.700 0
dbSNP: rs797044801
rs797044801
AARS1
1 1.000 0.080 16 70254688 missense variant T/G snv 0.700 0
dbSNP: rs797044802
rs797044802
IGHMBP2
3 0.882 0.120 11 68908338 splice donor variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs797044803
rs797044803
IGHMBP2
1 1.000 0.080 11 68938355 splice donor variant G/T snv 2.1E-05 0.700 0
dbSNP: rs80356814
rs80356814
LMNA
15 0.732 0.320 1 156138697 synonymous variant C/T snv 8.0E-06 0.700 0
dbSNP: rs104894351
rs104894351
HSPB8 ; LOC107984440
7 0.827 0.080 12 119187078 missense variant A/C;G snv 0.710 1.000 1 2006 2006
dbSNP: rs121913597
rs121913597
MPZ
5 0.827 0.160 1 161307268 missense variant T/A snv 0.710 1.000 1 2000 2000
dbSNP: rs145770066
rs145770066
MED25 ; MIR6800
4 0.882 0.080 19 49830790 missense variant C/T snv 3.8E-03 4.3E-03 0.710 1.000 1 2009 2009