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: rs375702318
rs375702318
ABCA12
1 1.000 0.080 2 215000928 missense variant G/A snv 1.6E-05 7.0E-06 0.010 1.000 1 2017 2017