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: rs121912953
rs121912953
MMP2
1 1.000 0.040 16 55483057 missense variant G/A snv 4.0E-06 0.800 1.000 3 2001 2006
dbSNP: rs121912955
rs121912955
MMP2
2 0.925 0.200 16 55491830 missense variant G/A snv 0.800 1.000 3 2001 2006
dbSNP: rs121912954
rs121912954
MMP2
1 1.000 0.040 16 55485677 stop gained C/A;G snv 0.700 0
dbSNP: rs1567378779
rs1567378779
MMP2
1 1.000 0.040 16 55493177 frameshift variant C/- delins 0.700 0
dbSNP: rs1567390809
rs1567390809
LPCAT2
1 1.000 0.040 16 55519320 intron variant G/A snv 0.700 0