rs121908978

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;G)	3	Carrier of a glycogen storage disease type Ib mutation
(G;G)	0	common in clinvar

Make rs121908978(A;A)

Reference

GRCh38 38.1/141

Chromosome

11

Position

119029287

Gene

SLC37A4

is a	snp
is	mentioned by
dbSNP	rs121908978
dbSNP (classic)	rs121908978
ClinGen	rs121908978
ebi	rs121908978
HLI	rs121908978
Exac	rs121908978
Gnomad	rs121908978
Varsome	rs121908978
LitVar	rs121908978
Map	rs121908978
PheGenI	rs121908978
Biobank	rs121908978
1000 genomes	rs121908978
hgdp	rs121908978
ensembl	rs121908978
geneview	rs121908978
scholar	rs121908978
google	rs121908978
pharmgkb	rs121908978
gwascentral	rs121908978
openSNP	rs121908978
23andMe	rs121908978
SNPshot	rs121908978
SNPdbe	rs121908978
MSV3d	rs121908978
GWAS Ctlg	rs121908978

Max Magnitude

3

aka c.83G>A (p.Arg28His or R28H)

OMIM	602671
Desc
Variant	0013
Related	also

ClinVar
Risk	rs121908978(A;A)
Alt	rs121908978(A;A)
Reference	Rs121908978(G;G)
Significance	Pathogenic
Disease	Glucose-6-phosphate transport defect not provided
Variation	info
Gene	SLC37A4
CLNDBN	Glucose-6-phosphate transport defect not provided
Reversed	1
HGVS	NC_000011.9:g.118899997C>T
CLNSRC	OMIM Allelic Variant UniProtKB (variants)
CLNACC	RCV000007345.3, RCV000059144.1,

[PMID 10026167] Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b.