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: rs121912938
rs121912938
COL6A1
3 0.882 0.160 21 45989129 missense variant G/A snv 0.700 0
dbSNP: rs121912939
rs121912939
COL6A1
3 0.882 0.160 21 45989617 missense variant G/A;C;T snv 0.700 0
dbSNP: rs267606748
rs267606748
COL6A2
3 0.882 0.160 21 46115917 missense variant G/A snv 0.700 0
dbSNP: rs398124126
rs398124126
COL6A3
3 0.882 0.160 2 237361120 splice donor variant C/T snv 0.700 0