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: rs121912872
rs121912872
COL2A1
1 1.000 0.080 12 47994440 missense variant C/T snv 0.800 1.000 3 1993 2008
dbSNP: rs121912898
rs121912898
COL2A1
1 1.000 0.080 12 48000041 missense variant C/T snv 0.800 1.000 3 1993 2008
dbSNP: rs121912885
rs121912885
COL2A1
1 1.000 0.080 12 47983435 missense variant G/A;T snv 1.6E-05 0.800 1.000 2 2000 2005
dbSNP: rs121912894
rs121912894
COL2A1
2 0.925 0.080 12 47993475 missense variant C/T snv 0.700 1.000 2 2000 2005
dbSNP: rs121912874
rs121912874
COL2A1
14 0.716 0.400 12 47978329 missense variant G/A snv 0.700 0
dbSNP: rs121912893
rs121912893
COL2A1
15 0.708 0.400 12 47983721 stop gained G/A;T snv 0.700 0
dbSNP: rs121912896
rs121912896
COL2A1
1 1.000 0.080 12 48000070 stop gained C/T snv 0.700 0
dbSNP: rs121912897
rs121912897
COL2A1
1 1.000 0.080 12 48000019 stop gained G/A;T snv 3.6E-05 0.700 0
dbSNP: rs794727261
rs794727261
COL2A1
14 0.716 0.400 12 47999953 stop gained G/T snv 0.700 0