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: rs148636776
rs148636776
ATXN2 ; SH2B3
18 0.790 0.280 12 111447491 missense variant G/A snv 1.5E-04 2.4E-04 0.700 0
dbSNP: rs72549398
rs72549398
ABCB11
8 0.790 0.240 2 168932442 missense variant G/A snv 1.2E-05 7.0E-06 0.700 0