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: rs121912891
rs121912891
COL2A1
5 0.882 0.080 12 47976052 missense variant C/T snv 7.0E-06 0.820 1.000 2 2007 2010
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: rs148881970
rs148881970
NAGLU
22 0.724 0.360 17 42543840 missense variant A/G snv 5.4E-05 1.3E-04 0.700 0
dbSNP: rs281864980
rs281864980
GNPTAB
4 0.851 0.160 12 101766189 missense variant C/T snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs555145190
rs555145190
NAGLU
21 0.732 0.360 17 42543921 stop gained G/A;C;T snv 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: rs1193507525
rs1193507525
COL2A1 ; LOC105369752
3 0.925 0.080 12 47980616 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs121912892
rs121912892
COL2A1 ; LOC105369752
2 1.000 0.040 12 47981829 missense variant C/T snv 0.010 1.000 1 2014 2014