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: rs146180399
rs146180399
CITED2
2 0.925 0.080 6 139373341 missense variant G/T snv 1.6E-04 5.2E-04 0.010 1.000 1 2012 2012