Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs80338677
MAN2B1
0.925 0.080 19 12655693 splice donor variant C/G snv 9.3E-05 7.7E-05 4
rs80338680
MAN2B1
1.000 0.080 19 12649932 missense variant G/A;C;T snv 2.3E-04; 4.0E-06 2
rs1555706706
MAN2B1
19 12649968 frameshift variant C/- delins 1