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: rs771603301
rs771603301
ATP7B
1.000 0.160 13 51935624 frameshift variant CA/- delins 1.4E-05
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.700 1.000 6 1995 2013