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
rs1057518908
COL2A1
0.882 0.120 12 47984112 missense variant C/T snv 6
rs121912880
COL2A1
0.882 0.080 12 47986353 missense variant C/A;T snv 3
rs121912891
COL2A1
0.882 0.080 12 47976052 missense variant C/T snv 7.0E-06 2
rs1057518911
COL2A1
12 47976531 missense variant C/G snv 2
rs765795867
COL2A1
12 47978098 missense variant C/A;T snv 2
rs121912886
COL2A1
0.925 0.080 12 47974090 missense variant G/A;T snv 8.0E-05 2
rs121912889
COL2A1
0.851 0.160 12 47974234 missense variant T/C snv 2
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
rs1555165501
LOC105369752 ; COL2A1
1.000 12 47978703 missense variant C/T snv 2
rs1555167139
COL2A1
12 47985937 missense variant C/T snv 1
rs1565681966
COL2A1
1.000 0.080 12 47985726 splice donor variant A/C snv 1
rs121912878
COL2A1
1.000 0.080 12 47978389 missense variant C/T snv 1
rs121912899
COL2A1
1.000 0.080 12 47985771 missense variant C/A snv 1
rs121912888
COL2A1
1.000 0.080 12 47985946 missense variant C/T snv 1
rs868417981
COL2A1
1.000 0.080 12 47986343 missense variant C/A;T snv 1
rs1555166729
COL2A1
1.000 0.080 12 47983699 missense variant C/T snv 1
rs1555165335
COL2A1
1.000 0.080 12 47978042 inframe deletion CACGGGGCCAGGAGGACC/- delins 1
rs672601354
COL2A1
1.000 0.160 12 47976889 frameshift variant -/AG ins 1
rs672601355
COL2A1
1.000 0.160 12 47987632 inframe insertion -/ACCCAGGAG delins 8.1E-06 1
rs121912877
COL2A1
1.000 0.240 12 47993825 missense variant C/T snv 1