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: rs1057518588
rs1057518588
IGHMBP2
6 0.851 0.160 11 68908632 splice donor variant G/A snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs1160978570
rs1160978570
IGHMBP2
5 0.925 0.120 11 68933482 splice donor variant G/C;T snv 4.1E-06 0.700 0
dbSNP: rs121908457
rs121908457
MYOT ; LOC101928005
13 0.882 0.120 5 137870815 missense variant C/T snv 0.700 0
dbSNP: rs774277300
rs774277300
MRE11
17 0.742 0.360 11 94447276 stop gained G/A;C;T snv 2.8E-05; 4.0E-05; 4.0E-06 0.700 0
dbSNP: rs879253887
rs879253887
IGHMBP2
6 0.925 0.120 11 68934542 missense variant C/T snv 4.1E-06 0.700 0
dbSNP: rs1176654400
rs1176654400
HK1
2 0.925 0.080 10 69359951 missense variant G/A snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs28940291
rs28940291
MFN2
9 0.776 0.080 1 11992660 missense variant G/A snv 4.0E-06 0.010 1.000 1 2019 2019