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: rs1555574151
rs1555574151
COL1A1
1.000 0.120 17 50195619 missense variant C/G snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.700 1.000 5 1993 2016