rs75485205

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	3	GLUT1 deficiency syndrome 1? Feedback sought ...
(G;G)	0	common in clinvar

Make rs75485205(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

42927224

Gene

SLC2A1

is a	snp
is	mentioned by
dbSNP	rs75485205
dbSNP (classic)	rs75485205
ClinGen	rs75485205
ebi	rs75485205
HLI	rs75485205
Exac	rs75485205
Gnomad	rs75485205
Varsome	rs75485205
LitVar	rs75485205
Map	rs75485205
PheGenI	rs75485205
Biobank	rs75485205
1000 genomes	rs75485205
hgdp	rs75485205
ensembl	rs75485205
geneview	rs75485205
scholar	rs75485205
google	rs75485205
pharmgkb	rs75485205
gwascentral	rs75485205
openSNP	rs75485205
23andMe	rs75485205
SNPshot	rs75485205
SNPdbe	rs75485205
MSV3d	rs75485205
GWAS Ctlg	rs75485205

Max Magnitude

3

SLC2A1 gene, c.1296C>A (p.Tyr432Ter)

ClinVar
Risk	rs75485205(A;A) rs75485205(T;T)
Alt	rs75485205(A;A) rs75485205(T;T)
Reference	Rs75485205(G;G)
Significance	Pathogenic
Disease	not specified GLUT1 deficiency syndrome 1 GLUT1 deficiency syndrome 1
Variation	info
Gene	SLC2A1
CLNDBN	not specified GLUT1 deficiency syndrome 1 GLUT1 deficiency syndrome 1, autosomal recessive
Reversed	0
HGVS	NC_000001.10:g.43392895G>A; NC_000001.10:g.43392895G>T
CLNSRC
CLNACC	RCV000081428.5, RCV000147522.1, RCV000457829.1, RCV000173823.1,