LAMC2, laminin subunit gamma 2, 3918

N. diseases: 602; N. variants: 66
Disease: Herlitz Disease ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057516218
rs1057516218 		1.000 0.080 1 183223248 frameshift variant GG/- del
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0