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: rs267607116
rs267607116
TMEM67
8 0.851 0.160 8 93808861 missense variant G/A;C snv 0.700 1.000 1 2009 2009