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: rs121912943
rs121912943
COL11A1
1 1.000 0.080 1 103004633 missense variant C/A snv 0.800 1.000 3 1996 2010
dbSNP: rs1553193910
rs1553193910
COL11A1
2 0.925 0.280 1 102888730 missense variant C/A snv 0.700 1.000 3 1996 2010
dbSNP: rs1553193913
rs1553193913
COL11A1
1 1.000 0.080 1 102888739 missense variant C/T snv 0.700 1.000 3 1996 2010
dbSNP: rs1557877041
rs1557877041
COL11A1
1 1.000 0.080 1 102962705 missense variant C/T snv 0.700 1.000 3 2000 2016
dbSNP: rs1057518666
rs1057518666
COL11A1
1 1.000 0.080 1 102978703 splice region variant C/T snv 0.700 1.000 1 2010 2010
dbSNP: rs1557847904
rs1557847904
COL11A1
1 1.000 0.080 1 102939032 splice donor variant CA/- delins 0.700 1.000 1 1999 1999
dbSNP: rs1557932876
rs1557932876
COL11A1
1 1.000 0.080 1 103004637 inframe deletion TGAGGACCT/- delins 0.700 1.000 1 2001 2001
dbSNP: rs749663226
rs749663226
COL11A1
1 1.000 0.080 1 103002764 missense variant C/T snv 0.700 0
dbSNP: rs866783525
rs866783525
COL11A1
1 1.000 0.080 1 102889523 stop gained C/A;T snv 0.700 0