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: rs121912891
rs121912891
COL2A1
5 0.882 0.080 12 47976052 missense variant C/T snv 7.0E-06 0.800 1.000 2 2005 2011
dbSNP: rs387906558
rs387906558
COL2A1 ; LOC105369752
1 1.000 0.080 12 47982892 missense variant C/T snv 0.800 1.000 2 2005 2011
dbSNP: rs121912874
rs121912874
COL2A1
14 0.716 0.400 12 47978329 missense variant G/A snv 0.700 0
dbSNP: rs121912893
rs121912893
COL2A1
15 0.708 0.400 12 47983721 stop gained G/A;T snv 0.700 0
dbSNP: rs138498898
rs138498898
COL2A1
1 1.000 0.080 12 47974258 missense variant G/A snv 1.6E-04 4.9E-05 0.700 0
dbSNP: rs794727261
rs794727261
COL2A1
14 0.716 0.400 12 47999953 stop gained G/T snv 0.700 0