Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv 45
rs121912893
COL2A1
0.708 0.400 12 47983721 stop gained G/A;T snv 15
rs121912874
COL2A1
0.716 0.400 12 47978329 missense variant G/A snv 14
rs794727261
COL2A1
0.716 0.400 12 47999953 stop gained G/T snv 14
rs121912876
COL2A1
0.925 0.280 12 47994041 missense variant G/A snv 2
rs121912882
COL2A1 ; LOC105369752
0.851 0.280 12 47979534 missense variant G/A snv 2
rs1025202963
COL2A1
1.000 0.240 12 47987655 missense variant C/T snv 1
rs121912869
COL2A1
1.000 0.240 12 47995904 stop gained G/A snv 1
rs121912873
COL2A1
1.000 0.240 12 47977627 frameshift variant A/- del 1
rs121912884
COL2A1
1.000 0.240 12 47985575 missense variant G/A snv 1
rs1246771678
COL2A1
1.000 0.240 12 48000055 stop gained G/A;T snv 1
rs1555164735
COL2A1
1.000 0.240 12 47975472 frameshift variant G/- del 1
rs1555165204
COL2A1
1.000 0.240 12 47977428 splice acceptor variant C/T snv 1
rs1555166658
COL2A1
1.000 0.240 12 47983384 splice donor variant C/T snv 1
rs1555168309
COL2A1
1.000 0.240 12 47992930 splice acceptor variant C/- delins 1
rs1555168965
COL2A1
1.000 0.240 12 47996544 splice region variant T/- delins 1
rs748459670
COL2A1
1.000 0.240 12 47978015 stop gained G/A;C snv 4.0E-06; 3.6E-05 1
rs886043356
COL2A1
1.000 0.240 12 47977118 missense variant C/T snv 1
rs1555166218
COL2A1 ; LOC105369752
1.000 0.240 12 47981804 frameshift variant G/-;GG delins 1
rs1555166295
COL2A1 ; LOC105369752
1.000 0.240 12 47982105 splice donor variant A/- del 1
rs1555166555
COL2A1 ; LOC105369752
1.000 0.240 12 47982940 stop gained G/A snv 1
rs121912931
COL9A1
0.882 0.280 6 70281033 stop gained G/A snv 1
rs121912866
LOC105369752 ; COL2A1
1.000 0.240 12 47978698 stop gained G/A snv 1