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: rs121912931
rs121912931
COL9A1
3 0.882 0.280 6 70281033 stop gained G/A snv 0.700 0
dbSNP: rs189754995
rs189754995
COL9A1
1 1.000 6 70255375 stop gained G/A;T snv 0.700 0