Gene: COL27A1 ×
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: rs1249744
rs1249744
COL27A1
1 1.000 9 114281072 intron variant A/G snv 0.22 0.010 1.000 1 2013 2013
dbSNP: rs2241671
rs2241671
COL27A1
1 1.000 9 114168819 missense variant G/A;T snv 0.41; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs2567705
rs2567705
COL27A1
1 1.000 9 114169386 missense variant A/G;T snv 0.33 0.010 1.000 1 2018 2018
dbSNP: rs4143245
rs4143245
COL27A1
1 1.000 9 114270742 synonymous variant T/C snv 0.42 0.42 0.010 1.000 1 2013 2013
dbSNP: rs753085
rs753085
COL27A1
1 1.000 9 114283167 intron variant G/A snv 0.20 0.010 1.000 1 2013 2013
dbSNP: rs946053
rs946053
COL27A1
3 1.000 9 114287611 intron variant T/G snv 0.63 0.010 1.000 1 2013 2013