rs386834236

plus

Geno	Mag	Summary
(G;G)	5	Likely to have Pompe disease
(G;T)	3	Unaffected carrier of a Pompe disease (adult onset GSD II) mutation
(T;T)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

17

Position

80104542

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs386834236
dbSNP (classic)	rs386834236
ClinGen	rs386834236
ebi	rs386834236
HLI	rs386834236
Exac	rs386834236
Gnomad	rs386834236
Varsome	rs386834236
LitVar	rs386834236
Map	rs386834236
PheGenI	rs386834236
Biobank	rs386834236
1000 genomes	rs386834236
hgdp	rs386834236
ensembl	rs386834236
geneview	rs386834236
scholar	rs386834236
google	rs386834236
pharmgkb	rs386834236
gwascentral	rs386834236
openSNP	rs386834236
23andMe	rs386834236
SNPshot	rs386834236
SNPdbe	rs386834236
MSV3d	rs386834236
GWAS Ctlg	rs386834236

Max Magnitude

5

aka c.-32-13T>G

rs386834236, also known as c.-32-13T>G, is an intronic variant in the GAA gene on chromosome 17. Inherited recessively, this variant accounts for 36% - 90% of late-onset Pompe disease, also known as (adult-onset) glycogen storage disease type II.[PMID 24150945 ]

See also: OMIM 606800.0006

ClinVar
Risk	Rs386834236(G;G)
Alt	Rs386834236(G;G)
Reference	Rs386834236(T;T)
Significance	Pathogenic
Disease	Glycogen storage disease II Glycogen storage disease not provided Inborn genetic diseases
Variation	info
Gene	GAA
CLNDBN	Glycogen storage disease II, adult form Glycogen storage disease, type II not provided Inborn genetic diseases
Reversed	0
HGVS	NC_000017.10:g.78078341T>G
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000004242.4, RCV000055770.3, RCV000153285.3, RCV000210721.1,