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: rs12436190
rs12436190
SLC7A7
1 1.000 0.040 14 22788107 intron variant A/G snv 0.30 0.010 1.000 1 2017 2017