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: rs121912945
rs121912945
COL11A2
1 1.000 0.120 6 33177216 missense variant C/G;T snv 4.1E-06; 8.1E-06 0.800 1.000 2 1995 2000
dbSNP: rs121912949
rs121912949
COL11A2
1 1.000 0.120 6 33174048 stop gained G/A;T snv 7.2E-05 0.700 0
dbSNP: rs121912951
rs121912951
COL11A2
1 1.000 0.120 6 33167822 stop gained G/A snv 1.4E-05 0.700 0
dbSNP: rs1562315748
rs1562315748
COL11A2
1 1.000 0.120 6 33167851 splice acceptor variant C/- delins 0.700 0
dbSNP: rs1565683138
rs1565683138
COL2A1
1 1.000 0.120 12 47986433 splice acceptor variant GGGCCCTGAGGACCAGCA/- delins 0.700 0