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: rs121912864
rs121912864
COL2A1
1 1.000 0.080 12 47977373 missense variant C/T snv 0.700 0
dbSNP: rs121912867
rs121912867
COL2A1 ; LOC105369752
2 0.925 0.080 12 47982142 missense variant C/T snv 0.700 0
dbSNP: rs121912868
rs121912868
COL2A1
1 1.000 0.080 12 47977607 missense variant C/T snv 0.700 0
dbSNP: rs1289257741
rs1289257741
GAA
2 0.925 0.080 17 80118690 frameshift variant AGGGA/- del 4.0E-06 0.010 1.000 1 1992 1992
dbSNP: rs1377808450
rs1377808450
COL2A1 ; LOC105369752
2 0.925 0.080 12 47980621 missense variant T/C snv 0.010 1.000 1 1992 1992