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: rs387906991
rs387906991
MFN2
1 1.000 0.080 1 12002028 missense variant C/G;T snv 3.2E-05 0.800 1.000 6 2006 2016
dbSNP: rs387906990
rs387906990
MFN2
2 0.925 0.080 1 11998817 missense variant T/C snv 4.0E-06 4.2E-05 0.800 1.000 5 2008 2016
dbSNP: rs119103267
rs119103267
MFN2
7 0.790 0.160 1 12009641 missense variant C/T snv 2.5E-04 2.8E-04 0.800 1.000 1 2015 2015
dbSNP: rs1553142699
rs1553142699
MFN2
1 1.000 0.080 1 11997313 missense variant C/T snv 0.700 1.000 5 2008 2016
dbSNP: rs28940291
rs28940291
MFN2
9 0.776 0.080 1 11992660 missense variant G/A snv 4.0E-06 0.700 1.000 5 2008 2016
dbSNP: rs119103268
rs119103268
MFN2
6 0.827 0.080 1 11992689 missense variant C/T snv 0.700 0
dbSNP: rs1478175861
rs1478175861
MFN2
1 1.000 0.080 1 11989274 inframe deletion AGA/- delins 7.0E-06 0.700 0
dbSNP: rs1553141017
rs1553141017
MFN2
1 1.000 0.080 1 11989322 missense variant G/A snv 0.700 0
dbSNP: rs28940292
rs28940292
MFN2
4 0.851 0.080 1 12011510 missense variant G/C snv 0.700 0
dbSNP: rs757937208
rs757937208
MFN2
1 1.000 0.080 1 11996178 missense variant G/A snv 1.6E-05 0.700 0