rs121908980

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs121908980(A;A)

Make rs121908980(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

119025298

Gene

SLC37A4

is a	snp
is	mentioned by
dbSNP	rs121908980
dbSNP (classic)	rs121908980
ClinGen	rs121908980
ebi	rs121908980
HLI	rs121908980
Exac	rs121908980
Gnomad	rs121908980
Varsome	rs121908980
LitVar	rs121908980
Map	rs121908980
PheGenI	rs121908980
Biobank	rs121908980
1000 genomes	rs121908980
hgdp	rs121908980
ensembl	rs121908980
geneview	rs121908980
scholar	rs121908980
google	rs121908980
pharmgkb	rs121908980
gwascentral	rs121908980
openSNP	rs121908980
23andMe	rs121908980
SNPshot	rs121908980
SNPdbe	rs121908980
MSV3d	rs121908980
GWAS Ctlg	rs121908980

Max Magnitude

0

OMIM	602671
Desc
Variant	0015
Related	also

ClinVar
Risk	rs121908980(A;A)
Alt	rs121908980(A;A)
Reference	Rs121908980(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.118896008C>T
CLNSRC	OMIM Allelic Variant UniProtKB (variants)
CLNACC	RCV000007347.3, RCV000059117.1,

[PMID 10931421] Glycogen storage disease type Ib without neutropenia.