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rs75485205

From SNPedia

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


Make rs75485205(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position42927224
GeneSLC2A1
is asnp
is mentioned by
dbSNPrs75485205
ClinGenrs75485205
ebirs75485205
HLIrs75485205
Exacrs75485205
Varsomers75485205
Maprs75485205
PheGenIrs75485205
hapmaprs75485205
1000 genomesrs75485205
hgdprs75485205
ensemblrs75485205
gopubmedrs75485205
geneviewrs75485205
scholarrs75485205
googlers75485205
pharmgkbrs75485205
gwascentralrs75485205
openSNPrs75485205
23andMers75485205
23andMe allrs75485205
SNP Nexus

SNPshotrs75485205
SNPdbers75485205
MSV3drs75485205
GWAS Ctlgrs75485205
Max Magnitude3

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,