rs267606858

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Likely miscall in DNA chip data, such as that from Ancestry or 23andMe; otherwise, carrier of a glycogen storage disease mutation
(T;T)	5	Likely miscall in DNA-chip based data, such as that from Ancestry or 23andMe; otherwise, Glycogen storage disease XV

Reference

GRCh38 38.1/141

Chromosome

3

Position

148996406

Gene

GYG1

is a	snp
is	mentioned by
dbSNP	rs267606858
dbSNP (classic)	rs267606858
ClinGen	rs267606858
ebi	rs267606858
HLI	rs267606858
Exac	rs267606858
Gnomad	rs267606858
Varsome	rs267606858
LitVar	rs267606858
Map	rs267606858
PheGenI	rs267606858
Biobank	rs267606858
1000 genomes	rs267606858
hgdp	rs267606858
ensembl	rs267606858
geneview	rs267606858
scholar	rs267606858
google	rs267606858
pharmgkb	rs267606858
gwascentral	rs267606858
openSNP	rs267606858
23andMe	rs267606858
SNPshot	rs267606858
SNPdbe	rs267606858
MSV3d	rs267606858
GWAS Ctlg	rs267606858

Max Magnitude

5

rs267606858, also known as c.248C>T, p.Thr83Met and T83M, represents a very rare mutation in the GYG1 gene on chromosome 3.

The rs267606858(T) mutation is considered pathogenic for glycogen storage disease XV, a recessively inherited disease, based on data in ClinVar and OMIM.

All DNA chip-based direct-to-consumer tests that we (SNPedia/Promethease) know about, such as those from Ancestry or 23andMe, appear to have a very high false-positive error rate for this SNP.

ClinVar
Risk	rs267606858(G;G) Rs267606858(T;T)
Alt	rs267606858(G;G) Rs267606858(T;T)
Reference	Rs267606858(C;C)
Significance	Pathogenic
Disease	Glycogen storage disease XV
Variation	info
Gene	GYG1
CLNDBN	Glycogen storage disease XV
Reversed	0
HGVS	NC_000003.11:g.148714193C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006318.5,