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: rs121913590
rs121913590
MPZ
5 0.851 0.080 1 161306864 missense variant G/A snv 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs745836948
rs745836948
LXN ; GFM1
2 1.000 0.040 3 158669595 missense variant A/G snv 4.0E-06 0.010 1.000 1 2006 2006