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: rs121908586
rs121908586
5 1.000 0.080 4 54274869 missense variant T/A;C snv 0.700 0
dbSNP: rs121908589
rs121908589
1 1.000 0.080 4 54274851 missense variant A/G snv 0.700 0