SEC61B, SEC61 translocon subunit beta, 10952

N. diseases: 5; N. variants: 2
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs730882051
rs730882051
Entrez Id: 10952;85365
Gene Symbol: SEC61B;ALG2
SEC61B;ALG2
CUI: C4015597
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 14
C 0.700 CausalMutation CLINVAR
dbSNP: rs730882123
rs730882123
Entrez Id: 10952;85365
Gene Symbol: SEC61B;ALG2
SEC61B;ALG2
CUI: C4015597
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 14
CGGGGACT 0.700 CausalMutation CLINVAR