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: rs140950220
rs140950220
COL27A1
1 1.000 9 114195977 missense variant G/C snv 2.8E-05 3.2E-04 0.810 1.000 1 2015 2015
dbSNP: rs1401322428
rs1401322428
COL27A1
1 1.000 9 114196007 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs1554787559
rs1554787559
COL27A1
1 1.000 9 114168076 frameshift variant GCGGGCAG/- del 0.700 0
dbSNP: rs1554821679
rs1554821679
COL27A1
1 1.000 9 114270726 splice acceptor variant A/G snv 0.700 0