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: rs12230172
rs12230172
LOC105369844
4 0.882 0.040 12 75848895 intron variant A/G snv 0.48 0.010 1.000 1 2015 2015