rs1057518967, COL1A2

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.
Multiple prenatal fractures
CUI: C1853171
Disease: Multiple prenatal fractures
1 1.000 0.040 7 94423102 missense variant G/A snv 0.700 0
Skeletal dysplasia
CUI: C0410528
Disease: Skeletal dysplasia
65 1.000 0.040 7 94423102 missense variant G/A snv 0.700 0