Gene: MAN2B1 ×
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: rs763100457
rs763100457
MAN2B1
2 1.000 0.080 19 12652271 splice acceptor variant C/A snv 8.0E-06 2.1E-05 0.700 1.000 6 1981 2015
dbSNP: rs80338677
rs80338677
MAN2B1
4 0.925 0.080 19 12655693 splice donor variant C/G snv 9.3E-05 7.7E-05 0.700 1.000 6 1981 2015