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rs28941474

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs28941474(C;C)
Make rs28941474(C;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position131573314
GeneARG1
is asnp
is mentioned by
dbSNPrs28941474
ebirs28941474
HLIrs28941474
Exacrs28941474
Varsomers28941474
Maprs28941474
PheGenIrs28941474
hapmaprs28941474
1000 genomesrs28941474
hgdprs28941474
ensemblrs28941474
gopubmedrs28941474
geneviewrs28941474
scholarrs28941474
googlers28941474
pharmgkbrs28941474
gwascentralrs28941474
openSNPrs28941474
23andMers28941474
23andMe allrs28941474
SNP Nexus

SNPshotrs28941474
SNPdbers28941474
MSV3drs28941474
GWAS Ctlgrs28941474
Max Magnitude0
OMIM608313
DescARGININEMIA
Variant0008
Relatedalso
ClinVar
Risk rs28941474(C;C)
Alt rs28941474(C;C)
Reference rs28941474(T;T)
Significance Pathogenic
Disease Arginase deficiency
Variation info
Gene ARG1
CLNDBN Arginase deficiency
Reversed 0
HGVS NC_000006.11:g.131894454T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002494.3,