Gene: COL2A1 ×
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: rs121912875
rs121912875
COL2A1 ; LOC105369752
1 1.000 0.080 12 47979519 missense variant C/A snv 0.800 1.000 2 1995 2005
dbSNP: rs121912880
rs121912880
COL2A1
4 0.882 0.080 12 47986353 missense variant C/A;T snv 0.800 1.000 2 1995 2005
dbSNP: rs121912881
rs121912881
COL2A1
1 1.000 0.080 12 47986388 missense variant C/A snv 0.800 1.000 2 1995 2005
dbSNP: rs121912895
rs121912895
COL2A1
1 1.000 0.080 12 47978320 missense variant T/C snv 0.800 1.000 2 1995 2005
dbSNP: rs121912871
rs121912871
COL2A1
1 1.000 0.080 12 47989769 missense variant C/T snv 0.700 0
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: rs794727261
rs794727261
COL2A1
14 0.716 0.400 12 47999953 stop gained G/T snv 0.700 0