Gene: COL3A1 ×
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: rs11887092
rs11887092
COL3A1 ; LOC105373791
2 1.000 0.120 2 188972572 upstream gene variant A/G snv 7.8E-02 0.010 1.000 1 2014 2014
dbSNP: rs1800255
rs1800255
COL3A1
5 0.851 0.160 2 188999354 missense variant G/A snv 0.25 0.21 0.010 1.000 1 2014 2014
dbSNP: rs2138533
rs2138533
COL3A1 ; LOC105373791
3 1.000 0.120 2 188972486 upstream gene variant T/A;C snv 0.010 1.000 1 2014 2014