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: rs121918551
rs121918551
AAAS
3 0.882 0.200 12 53308095 missense variant G/A snv 4.0E-06 0.010 1.000 1 2008 2008