Have questions? Visit https://www.reddit.com/r/SNPedia

rs104886460

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
(G;T) 3 Unaffected carrier of Gaucher disease variant
(T;T) 7 Gaucher disease
ReferenceGRCh37.p2 37.2/134
Chromosome1
Position155210420
GeneGBA
is asnp
is mentioned by
dbSNPrs104886460
ebirs104886460
HLIrs104886460
Exacrs104886460
Varsomers104886460
Maprs104886460
PheGenIrs104886460
hapmaprs104886460
1000 genomesrs104886460
hgdprs104886460
ensemblrs104886460
gopubmedrs104886460
geneviewrs104886460
scholarrs104886460
googlers104886460
pharmgkbrs104886460
gwascentralrs104886460
openSNPrs104886460
23andMers104886460
23andMe allrs104886460
SNP Nexus

SNPshotrs104886460
SNPdbers104886460
MSV3drs104886460
GWAS Ctlgrs104886460
Max Magnitude7
rs104886460 represents a rare variation in the acid beta-glucocerebrosidase (GBA) gene. Gaucher's disease is an autosomal recessive lysosomal storage disorder due to deficient activity of beta-glucocerebrosidase, and over 200 mutations have been described in the GBA gene, many of which lead to Gaucher Type I or Type II disease.

The mutation encoded by rs104886460 is one of the top 5 or so Gaucher-related variations found in Ashkenazi Jews, and is known as "IVS2+1G-A". It is most commonly associated with Gaucher Type I disease but has also been seen associated with Type II disease, apparently depending on the nature of the "other" GBA mutation found in an individual (since it's a recessive condition requiring both alleles to be affected).

See also: OMIM 606463.0015

OMIM606463
Desc
Variant0015
Relatedalso
ClinVar
Risk rs104886460(A,T;A,T)
Alt rs104886460(A,T;A,T)
Reference rs104886460(G;G)
Significance Pathogenic
Disease not provided Gaucher's disease
Variation info
Gene GBA
CLNDBN not provided Gaucher's disease, type 1
Reversed 1
HGVS NC_000001.10:g.155210420C>T
CLNSRC HGMD
CLNACC RCV000079332.3, RCV000177098.1,