Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs67815019
rs67815019
COL1A1
0.925 0.120 17 50187041 missense variant C/A;T snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.700 1.000 6 2007 2017