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: rs1285225437
rs1285225437
MFF
1 1.000 2 227332521 frameshift variant C/- del 7.0E-06 0.700 0
dbSNP: rs397514615
rs397514615
MFF
3 0.882 0.120 2 227330777 stop gained C/T snv 0.700 0
dbSNP: rs753829320
rs753829320
MFF
2 1.000 2 227355756 stop gained C/T snv 0.700 0
dbSNP: rs879255690
rs879255690
MFF
1 1.000 2 227340312 frameshift variant AA/- delins 0.700 0
dbSNP: rs886037862
rs886037862
MFF
1 1.000 2 227330769 frameshift variant -/C delins 0.700 0