Gene: HBM ×
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: rs148323035
rs148323035
HBM
1 16 166091 splice donor variant T/C snv 2.0E-02 8.3E-03 0.700 1.000 1 2017 2017
dbSNP: rs2541639
rs2541639
HBM
4 16 155036 intron variant G/A snv 0.21 0.700 1.000 1 2018 2018