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: rs121912889
rs121912889
COL2A1
4 0.851 0.160 12 47974234 missense variant T/C snv 0.710 1.000 1 2007 2007
dbSNP: rs121912886
rs121912886
COL2A1
2 0.925 0.080 12 47974090 missense variant G/A;T snv 8.0E-05 0.700 1.000 1 2001 2001
dbSNP: rs121912874
rs121912874
COL2A1
14 0.716 0.400 12 47978329 missense variant G/A snv 0.700 0
dbSNP: rs121912880
rs121912880
COL2A1
4 0.882 0.080 12 47986353 missense variant C/A;T snv 0.700 0
dbSNP: rs121912890
rs121912890
COL2A1
1 1.000 0.080 12 47974092 stop gained G/T 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: rs1565664375
rs1565664375
COL2A1
1 1.000 0.080 12 47973534 frameshift variant C/- delins 0.700 0
dbSNP: rs794727261
rs794727261
COL2A1
14 0.716 0.400 12 47999953 stop gained G/T snv 0.700 0