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: rs771866012
rs771866012
CHST3
8 0.882 0.080 10 72007522 missense variant C/G;T snv 4.2E-06; 4.2E-06 0.700 0
dbSNP: rs794727261
rs794727261
COL2A1
14 0.716 0.400 12 47999953 stop gained G/T snv 0.700 0
dbSNP: rs121912880
rs121912880
COL2A1
4 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