SEC61B, SEC61 translocon subunit beta, 10952

N. diseases: 5; N. variants: 2
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: rs730882051
rs730882051 		1.000 9 99221692 missense variant A/C snv
CUI: C4015597
Disease: MYASTHENIC SYNDROME, CONGENITAL, 14
MYASTHENIC SYNDROME, CONGENITAL, 14 		0.700 0
dbSNP: rs730882123
rs730882123 		1.000 9 99221671 protein altering variant AGCCAGTCCCC/CGGGGACT delins
CUI: C4015597
Disease: MYASTHENIC SYNDROME, CONGENITAL, 14
MYASTHENIC SYNDROME, CONGENITAL, 14 		0.700 0