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rs77369218

From SNPedia

Orientationminus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs77369218(A;T)
Make rs77369218(T;T)
ReferenceGRCh38 38.1/142
Chromosome1
Position155205517
GeneGBA
is asnp
is mentioned by
dbSNPrs77369218
ebirs77369218
HLIrs77369218
Exacrs77369218
Varsomers77369218
Maprs77369218
PheGenIrs77369218
hapmaprs77369218
1000 genomesrs77369218
hgdprs77369218
ensemblrs77369218
gopubmedrs77369218
geneviewrs77369218
scholarrs77369218
googlers77369218
pharmgkbrs77369218
gwascentralrs77369218
openSNPrs77369218
23andMers77369218
23andMe allrs77369218
SNP Nexus

SNPshotrs77369218
SNPdbers77369218
MSV3drs77369218
GWAS Ctlgrs77369218
Max Magnitude0
OMIM606463
Desc
Variant0006
Relatedalso
OMIM606463
Desc
Variant0007
Relatedalso
ClinVar
Risk rs77369218(T;T)
Alt rs77369218(T;T)
Reference rs77369218(A;A)
Significance Pathogenic
Disease Subacute neuronopathic Gaucher's disease Gaucher disease
Variation info
Gene GBA
CLNDBN Subacute neuronopathic Gaucher's disease Gaucher disease
Reversed 1
HGVS NC_000001.10:g.155205517T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004527.2, RCV000020149.1,


[PMID 2508065OA-icon.png] Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid beta-glucosidase gene.


[PMID 7475546] Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype.


[PMID 7627184] Gaucher disease in Spanish patients: analysis of eight mutations.


[PMID 7655857] Five new Gaucher disease mutations.


[PMID 11148530] A new variant neuropathic type of Gaucher's disease characterized by hydrocephalus, corneal opacities, deformed toes, and fibrous thickening of spleen and liver capsules.


[PMID 18586596] Molecular analysis of Turkish Gaucher disease patients: identification of novel mutations in glucocerebrosidase (GBA) gene.