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: rs121912882
rs121912882
COL2A1 ; LOC105369752
4 0.851 0.280 12 47979534 missense variant G/A snv 0.700 0
dbSNP: rs1635529
rs1635529
COL2A1
2 0.925 0.040 12 48001319 intron variant T/G snv 0.78 0.010 1.000 1 2012 2012