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: rs782172825
rs782172825
CCN6
1 1.000 0.040 6 112061139 missense variant G/A snv 2.1E-05 0.010 < 0.001 1 2016 2016
dbSNP: rs869312907
rs869312907
COL2A1
2 0.925 0.040 12 47995910 missense variant C/T snv 0.010 1.000 1 2015 2015