Have questions? Visit https://www.reddit.com/r/SNPedia

rs80358214

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80358214(C;T)
Make rs80358214(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position182384557
GeneGLUL
is asnp
is mentioned by
dbSNPrs80358214
ebirs80358214
HLIrs80358214
Exacrs80358214
Varsomers80358214
Maprs80358214
PheGenIrs80358214
hapmaprs80358214
1000 genomesrs80358214
hgdprs80358214
ensemblrs80358214
gopubmedrs80358214
geneviewrs80358214
scholarrs80358214
googlers80358214
pharmgkbrs80358214
gwascentralrs80358214
openSNPrs80358214
23andMers80358214
23andMe allrs80358214
SNP Nexus

SNPshotrs80358214
SNPdbers80358214
MSV3drs80358214
GWAS Ctlgrs80358214
Max Magnitude0
OMIM138290
Desc
Variant0001
Relatedalso
ClinVar
Risk rs80358214(A,T;A,T)
Alt rs80358214(A,T;A,T)
Reference rs80358214(C;C)
Significance Pathogenic
Disease Glutamine deficiency
Variation info
Gene GLUL
CLNDBN Glutamine deficiency, congenital
Reversed 1
HGVS NC_000001.10:g.182353692G>A; NC_000001.10:g.182353692G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017463.26, RCV000022586.27,