Source: CURATED

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: rs72645318
rs72645318
COL1A1
0.882 0.200 17 50197057 stop gained G/A snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.700 1.000 4 2004 2016