Gene: COL1A2 ×
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: rs1554396271
rs1554396271
COL1A2
3 0.925 0.120 7 94410899 missense variant G/A;T snv 0.700 1.000 16 1979 2018
dbSNP: rs72658127
rs72658127
COL1A2
2 1.000 7 94413139 splice region variant A/G snv 0.700 1.000 16 1979 2018