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rs381737

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 6 Gaucher disease (predicted if orientation is correct)
(A;T) 3 Unaffected carrier of Gaucher disease variant
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome1
Position155207932
GeneGBA
is asnp
is mentioned by
dbSNPrs381737
ebirs381737
HLIrs381737
Exacrs381737
Varsomers381737
Maprs381737
PheGenIrs381737
hapmaprs381737
1000 genomesrs381737
hgdprs381737
ensemblrs381737
gopubmedrs381737
geneviewrs381737
scholarrs381737
googlers381737
pharmgkbrs381737
gwascentralrs381737
openSNPrs381737
23andMers381737
23andMe allrs381737
SNP Nexus

SNPshotrs381737
SNPdbers381737
MSV3drs381737
GWAS Ctlgrs381737
Max Magnitude6
OMIM606463
DescGAUCHER DISEASE, TYPE III
Variant0013
Relatedalso
ClinVar
Risk rs381737(A;A)
Alt rs381737(A;A)
Reference rs381737(T;T)
Significance Pathogenic
Disease Subacute neuronopathic Gaucher's disease Acute neuronopathic Gaucher's disease Gaucher's disease Gaucher disease not provided
Variation info
Gene GBA
CLNDBN Subacute neuronopathic Gaucher's disease Acute neuronopathic Gaucher's disease Gaucher's disease, type 1 Gaucher disease not provided
Reversed 1
HGVS NC_000001.10:g.155207932A>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000004540.4, RCV000004541.4, RCV000004542.4, RCV000020158.1, RCV000079355.3,


[PMID 1840477OA-icon.png] A new glucocerebrosidase-gene missense mutation responsible for neuronopathic Gaucher disease in Japanese patients.