Source: BEFREE ×
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: rs121912880
rs121912880
COL2A1
1 0.882 0.080 12 47986353 missense variant C/A;T snv 0.020 1.000 2 2008 2008
dbSNP: rs1215825701
rs1215825701
COL2A1
1 1.000 0.080 12 47978605 missense variant C/T snv 0.010 1.000 1 1995 1995
dbSNP: rs886044555
rs886044555
COL2A1
3 0.925 0.080 12 47985772 missense variant C/T snv 0.010 1.000 1 2014 2014