Source: ALL

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: rs771613805
rs771613805
LAMC2
1.000 0.080 1 183207879 splice acceptor variant A/G snv 1.6E-05 1.5E-05
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.700 0