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: rs63750743
rs63750743
TMEM43
4 0.925 0.080 3 14141665 missense variant C/T snv 0.800 1.000 7 2008 2017
dbSNP: rs151010429
rs151010429
TMEM43
1 1.000 0.080 3 14130828 missense variant G/A;T snv 9.2E-05; 4.0E-06 0.700 0