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: rs119103265
rs119103265
MFN2
5 0.827 0.120 1 12002033 missense variant C/T snv 0.820 1.000 2 2006 2011
dbSNP: rs119103263
rs119103263
MFN2
19 0.827 0.240 1 11992659 missense variant C/T snv 0.800 0
dbSNP: rs119103264
rs119103264
MFN2
1 1.000 0.080 1 12001411 missense variant A/G snv 0.800 0
dbSNP: rs119103266
rs119103266
MFN2
1 1.000 0.080 1 11998787 missense variant C/T snv 0.800 0
dbSNP: rs28940291
rs28940291
MFN2
9 0.776 0.080 1 11992660 missense variant G/A snv 4.0E-06 0.700 1.000 4 2006 2015
dbSNP: rs1057517987
rs1057517987
MFN2
1 1.000 0.080 1 12004083 stop gained C/T snv 0.700 0
dbSNP: rs119103267
rs119103267
MFN2
7 0.790 0.160 1 12009641 missense variant C/T snv 2.5E-04 2.8E-04 0.700 0
dbSNP: rs119103268
rs119103268
MFN2
6 0.827 0.080 1 11992689 missense variant C/T snv 0.700 0
dbSNP: rs1553145402
rs1553145402
MFN2
1 1.000 0.080 1 12006658 frameshift variant -/G delins 0.700 0
dbSNP: rs28940292
rs28940292
MFN2
4 0.851 0.080 1 12011510 missense variant G/C snv 0.700 0
dbSNP: rs864622480
rs864622480
MFN2
2 0.925 0.080 1 11998999 missense variant C/A;G snv 0.700 0