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rs1800299

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1800299(A;A)
Make rs1800299(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position80104857
GeneGAA
is asnp
is mentioned by
dbSNPrs1800299
ebirs1800299
HLIrs1800299
Exacrs1800299
Varsomers1800299
Maprs1800299
PheGenIrs1800299
hapmaprs1800299
1000 genomesrs1800299
hgdprs1800299
ensemblrs1800299
gopubmedrs1800299
geneviewrs1800299
scholarrs1800299
googlers1800299
pharmgkbrs1800299
gwascentralrs1800299
openSNPrs1800299
23andMers1800299
23andMe allrs1800299
SNP Nexus

SNPshotrs1800299
SNPdbers1800299
MSV3drs1800299
GWAS Ctlgrs1800299
GMAF0.01561
Max Magnitude0
OMIM606800
Desc
Variant0001
Relatedalso
ClinVar
Risk rs1800299(A,T;A,T)
Alt rs1800299(A,T;A,T)
Reference rs1800299(G;G)
Significance Probable-non-pathogenic
Disease Acid alpha-glucosidase not provided not specified
Variation info
Gene GAA
CLNDBN Acid alpha-glucosidase, allele 2 not provided not specified
Reversed 0
HGVS NC_000017.10:g.78078656G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000004235.1, RCV000078177.4, RCV000117106.2,


GET Evidence
GAA-D91N
aa_change Asp91Asn
aa_change_short D91N
impact benign
qualified_impact Low clinical importance, Uncertain benign
overall_frequency 0.0237033
summary This is a rare but non-pathogenic coding polymorphism in GAA that creates variant allozyme, known as GAA*2.