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rs1135675

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1135675(C;C)
Make rs1135675(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position155235203
GeneGBA
is asnp
is mentioned by
dbSNPrs1135675
ebirs1135675
HLIrs1135675
Exacrs1135675
Varsomers1135675
Maprs1135675
PheGenIrs1135675
hapmaprs1135675
1000 genomesrs1135675
hgdprs1135675
ensemblrs1135675
gopubmedrs1135675
geneviewrs1135675
scholarrs1135675
googlers1135675
pharmgkbrs1135675
gwascentralrs1135675
openSNPrs1135675
23andMers1135675
23andMe allrs1135675
SNP Nexus

SNPshotrs1135675
SNPdbers1135675
MSV3drs1135675
GWAS Ctlgrs1135675
Max Magnitude0
ClinVar
Risk rs1135675(C;C)
Alt rs1135675(C;C)
Reference rs1135675(G;G)
Significance Pathogenic
Disease Gaucher's disease Acute neuronopathic Gaucher's disease Subacute neuronopathic Gaucher's disease Gaucher disease not specified
Variation info
Gene GBA
CLNDBN Gaucher's disease, type 1 Acute neuronopathic Gaucher's disease Subacute neuronopathic Gaucher's disease Gaucher disease, perinatal lethal not specified
Reversed 1
HGVS NC_000001.10:g.155204994C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004533.4, RCV000004534.4, RCV000004535.4, RCV000004536.4, RCV000079342.4,