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rs104893944

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893944(C;T)
Make rs104893944(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position131576666
GeneARG1, MED23
is asnp
is mentioned by
dbSNPrs104893944
ebirs104893944
HLIrs104893944
Exacrs104893944
Varsomers104893944
Maprs104893944
PheGenIrs104893944
hapmaprs104893944
1000 genomesrs104893944
hgdprs104893944
ensemblrs104893944
gopubmedrs104893944
geneviewrs104893944
scholarrs104893944
googlers104893944
pharmgkbrs104893944
gwascentralrs104893944
openSNPrs104893944
23andMers104893944
23andMe allrs104893944
SNP Nexus

SNPshotrs104893944
SNPdbers104893944
MSV3drs104893944
GWAS Ctlgrs104893944
Max Magnitude0
OMIM608313
Desc
Variant0012
Relatedalso
ClinVar
Risk rs104893944(T;T)
Alt rs104893944(T;T)
Reference rs104893944(C;C)
Significance Pathogenic
Disease Arginase deficiency
Variation info
Gene MED23 ARG1
CLNDBN Arginase deficiency
Reversed 0
HGVS NC_000006.11:g.131897806C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002498.3,