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: rs13419896
rs13419896
EPAS1
8 0.776 0.240 2 46329206 intron variant G/A snv 0.10 0.010 1.000 1 2016 2016