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: rs1061970
rs1061970
COL1A1
3 0.882 0.040 17 50184491 3 prime UTR variant A/G snv 0.13 0.010 1.000 1 2014 2014
dbSNP: rs2075559
rs2075559
COL1A1
3 0.882 0.040 17 50189930 intron variant G/A;C;T snv 0.52; 4.0E-06 0.010 1.000 1 2014 2014