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rs104893947

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893947(A;A)
Make rs104893947(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position131581278
GeneARG1, MED23
is asnp
is mentioned by
dbSNPrs104893947
ebirs104893947
HLIrs104893947
Exacrs104893947
Varsomers104893947
Maprs104893947
PheGenIrs104893947
hapmaprs104893947
1000 genomesrs104893947
hgdprs104893947
ensemblrs104893947
gopubmedrs104893947
geneviewrs104893947
scholarrs104893947
googlers104893947
pharmgkbrs104893947
gwascentralrs104893947
openSNPrs104893947
23andMers104893947
23andMe allrs104893947
SNP Nexus

SNPshotrs104893947
SNPdbers104893947
MSV3drs104893947
GWAS Ctlgrs104893947
Max Magnitude0
OMIM608313
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104893947(A;A)
Alt rs104893947(A;A)
Reference rs104893947(G;G)
Significance Pathogenic
Disease Arginase deficiency
Variation info
Gene MED23 ARG1
CLNDBN Arginase deficiency
Reversed 0
HGVS NC_000006.11:g.131902418G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002491.4,