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: rs587776826
rs587776826
HBA2
1 1.000 0.080 16 173147 frameshift variant ACCAAGA/TACTTC delins 0.700 0
dbSNP: rs1195271113
rs1195271113
HBA1
1 1.000 0.080 16 176805 missense variant T/C snv 0.010 1.000 1 1993 1993
dbSNP: rs41341344
rs41341344
HBA2
2 0.925 0.080 16 173001 missense variant T/C snv 0.010 1.000 1 1993 1993