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: rs1057524237
rs1057524237
COL11A1
7 0.851 0.280 1 102915626 splice region variant C/T snv 0.700 0
dbSNP: rs1553193910
rs1553193910
COL11A1
2 0.925 0.280 1 102888730 missense variant C/A snv 0.700 0
dbSNP: rs398122828
rs398122828
COL11A1
2 1.000 0.240 1 102915630 splice donor variant C/T snv 0.700 0