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: rs121918372
rs121918372
PHB
1 1.000 0.080 17 49409410 missense variant C/T snv 1.6E-05 2.1E-05 0.700 0
dbSNP: rs121918373
rs121918373
PHB
1 1.000 0.080 17 49409461 missense variant A/G snv 0.700 0
dbSNP: rs6917
rs6917
PHB
7 0.790 0.200 17 49404181 3 prime UTR variant G/A snv 0.16 0.010 1.000 1 2018 2018