LAMB1, laminin subunit beta 1, 3912

N. diseases: 75; N. variants: 14
Disease: LISSENCEPHALY 5 ×
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: rs387907343
rs387907343 		1.000 7 107952145 stop gained TGACCAGTGGCTTT/ATTAGGAAGACACAAGCACATTAGGAAGACACAAGCACTGG delins
CUI: C3554657
Disease: LISSENCEPHALY 5
LISSENCEPHALY 5 		0.700 0