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: rs13317
rs13317
3 0.882 0.120 8 38411996 3 prime UTR variant T/C snv 0.23 0.700 1.000 1 2017 2017
dbSNP: rs397515445
rs397515445
7 0.807 0.280 8 38414263 missense variant T/C snv 0.010 1.000 1 2015 2015