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: rs121912947
rs121912947
COL11A2
1 1.000 0.120 6 33171763 missense variant G/A snv 0.800 1.000 1 1999 1999
dbSNP: rs121912948
rs121912948
COL11A2
1 1.000 0.120 6 33174534 missense variant C/T snv 0.800 1.000 1 1999 1999
dbSNP: rs121912950
rs121912950
COL11A2
2 0.925 0.200 6 33167305 stop gained G/A snv 0.700 1.000 1 2004 2004