rs72645368, COL1A1

N. diseases: 1
Source: CLINVAR ×
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
234 1.000 0.120 17 50195611 missense variant C/T snv 0.700 1.000 8 1993 2015