Gene: COL2A1 ×
Source: CLINVAR ×
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: rs121912870
rs121912870
COL2A1
1 1.000 0.080 12 47975971 missense variant C/T snv 0.800 1.000 0 1989 2001
dbSNP: rs121912874
rs121912874
COL2A1
14 0.716 0.400 12 47978329 missense variant G/A snv 0.800 1.000 0 1989 2001
dbSNP: rs121912883
rs121912883
COL2A1
1 1.000 0.080 12 47976043 missense variant C/G snv 0.800 1.000 0 1989 2001
dbSNP: rs121912886
rs121912886
COL2A1
2 0.925 0.080 12 47974090 missense variant G/A;T snv 8.0E-05 0.800 1.000 0 1989 2001
dbSNP: rs864621973
rs864621973
COL2A1
1 1.000 0.080 12 47977128 stop gained C/A;T snv 4.1E-06 0.700 1.000 1 2015 2015
dbSNP: rs121912893
rs121912893
COL2A1
15 0.708 0.400 12 47983721 stop gained G/A;T snv 0.700 0
dbSNP: rs1555164872
rs1555164872
COL2A1
1 1.000 0.080 12 47975961 splice acceptor variant ACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCG/- del 0.700 0
dbSNP: rs1555167783
rs1555167783
COL2A1
1 1.000 0.080 12 47989236 missense variant C/T snv 0.700 0
dbSNP: rs1565664095
rs1565664095
COL2A1
1 1.000 0.080 12 47973418 missense variant A/G snv 0.700 0
dbSNP: rs1565679062
rs1565679062
COL2A1
1 1.000 0.080 12 47983410 missense variant C/T snv 0.700 0
dbSNP: rs794727261
rs794727261
COL2A1
14 0.716 0.400 12 47999953 stop gained G/T snv 0.700 0