rs67828806, COL1A1

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
OI-EDS Combined Syndrome
CUI: C1852924
Disease: OI-EDS Combined Syndrome
1 1.000 0.200 17 50198177 missense variant C/G;T snv 0.700 0
OSTEOGENESIS IMPERFECTA, TYPE I, MILD
CUI: C4015950
Disease: OSTEOGENESIS IMPERFECTA, TYPE I, MILD
2 1.000 0.200 17 50198177 missense variant C/G;T snv 0.700 0