rs72645362, COL1A1

N. diseases: 1
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.
Lobstein Disease
CUI: C0023931
Disease: Lobstein Disease
257 1.000 0.120 17 50195934 missense variant C/A;T snv 2.4E-05 0.710 1.000 12 1988 2014