Gene: COL1A1 ×
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: rs1057518930
rs1057518930
COL1A1
3 1.000 0.080 17 50197009 splice donor variant C/G snv 0.700 0
dbSNP: rs66527965
rs66527965
COL1A1
31 0.763 0.240 17 50193038 missense variant C/A;T snv 0.700 0
dbSNP: rs1473998316
rs1473998316
COL1A1
1 1.000 0.080 17 50195926 synonymous variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs72645347
rs72645347
COL1A1
10 0.790 0.280 17 50196337 missense variant G/A snv 0.010 1.000 1 2007 2007
dbSNP: rs72648365
rs72648365
COL1A1
2 0.925 0.240 17 50193990 missense variant G/A;C snv 0.010 1.000 1 2007 2007
dbSNP: rs72656307
rs72656307
COL1A1
2 0.925 0.240 17 50187968 missense variant G/A snv 2.4E-05 2.1E-05 0.010 1.000 1 2007 2007