Gene: COL11A1 ×
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: rs3753841
rs3753841
COL11A1
7 0.827 0.080 1 102914362 missense variant G/A snv 0.61 0.49 0.700 1.000 1 2012 2012
dbSNP: rs993471
rs993471
COL11A1
1 1.000 0.040 1 102919817 intron variant G/A snv 0.49 0.700 1.000 1 2018 2018