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rs55758736

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs55758736(A;A)
Make rs55758736(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position11548067
GeneBLK
is asnp
is mentioned by
dbSNPrs55758736
ebirs55758736
HLIrs55758736
Exacrs55758736
Varsomers55758736
Maprs55758736
PheGenIrs55758736
hapmaprs55758736
1000 genomesrs55758736
hgdprs55758736
ensemblrs55758736
gopubmedrs55758736
geneviewrs55758736
scholarrs55758736
googlers55758736
pharmgkbrs55758736
gwascentralrs55758736
openSNPrs55758736
23andMers55758736
23andMe allrs55758736
SNP Nexus

SNPshotrs55758736
SNPdbers55758736
MSV3drs55758736
GWAS Ctlgrs55758736
GMAF0.0101
Max Magnitude0
ClinVar
Risk rs55758736(A;A)
Alt rs55758736(A;A)
Reference rs55758736(G;G)
Significance Pathogenic
Disease Maturity-onset diabetes of the young not specified
Variation info
Gene BLK
CLNDBN Maturity-onset diabetes of the young, type 11 not specified
Reversed 0
HGVS NC_000008.10:g.11405576G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013112.22, RCV000116496.1,


[PMID 22696686OA-icon.png] Fine mapping and conditional analysis identify a new mutation in the autoimmunity susceptibility gene BLK that leads to reduced half-life of the BLK protein.