rs72645357, COL1A1

N. diseases: 8
Disease: Lobstein Disease ×
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 0.776 0.240 17 50196163 missense variant C/T snv 0.700 1.000 8 1991 2015