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: rs121912942
rs121912942
COL6A2
2 0.925 0.080 21 46126535 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs1427750922
rs1427750922
COL6A2
1 1.000 0.080 21 46132383 missense variant T/C snv 4.1E-06 1.4E-05 0.700 0
dbSNP: rs751987553
rs751987553
COL6A2
2 0.925 0.120 21 46125301 stop gained C/A;T snv 2.8E-05 0.700 0