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: rs397514044
rs397514044
TMEM43
1 1.000 3 14130912 missense variant G/A snv 4.0E-06 0.800 1.000 1 2011 2011
dbSNP: rs144811578
rs144811578
TMEM43
1 1.000 3 14130930 missense variant A/G snv 8.0E-05 9.1E-05 0.700 1.000 1 2011 2011