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: rs535212284
rs535212284
COL9A2
1 1.000 0.160 1 40302639 missense variant C/T snv 0.700 0
dbSNP: rs672601354
rs672601354
COL2A1
1 1.000 0.160 12 47976889 frameshift variant -/AG ins 0.700 0
dbSNP: rs672601355
rs672601355
COL2A1
1 1.000 0.160 12 47987632 inframe insertion -/ACCCAGGAG delins 8.1E-06 0.700 0
dbSNP: rs121912882
rs121912882
COL2A1 ; LOC105369752
4 0.851 0.280 12 47979534 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs121912931
rs121912931
COL9A1
3 0.882 0.280 6 70281033 stop gained G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs367718984
rs367718984
LOXL3
2 0.925 0.280 2 74536348 missense variant G/A snv 2.0E-05; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs555821491
rs555821491
LOXL3
2 0.925 0.280 2 74535400 missense variant G/A snv 1.2E-05 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs779666896
rs779666896
COL9A1
2 0.925 0.280 6 70274076 missense variant G/A;T snv 4.1E-06; 2.5E-05 0.010 1.000 1 2019 2019