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: rs1054486
rs1054486
MAN2B1
1 19 12663394 missense variant G/C snv 0.25 0.31 0.700 1.000 1 2009 2009
dbSNP: rs117130511
rs117130511
MAN2B1 ; WDR83
1 19 12665022 intron variant G/A snv 8.7E-03 9.0E-03 0.700 1.000 1 2019 2019