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: rs28940291
rs28940291
MFN2
9 0.776 0.080 1 11992660 missense variant G/A snv 4.0E-06 0.030 1.000 3 2007 2011
dbSNP: rs119103265
rs119103265
MFN2
5 0.827 0.120 1 12002033 missense variant C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs762440627
rs762440627
MFN2
1 1.000 0.080 1 12001404 missense variant C/T snv 1.6E-05 7.0E-06 0.010 1.000 1 2017 2017