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rs104893942

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893942(C;G)
Make rs104893942(G;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position131583808
GeneARG1, MED23
is asnp
is mentioned by
dbSNPrs104893942
ebirs104893942
HLIrs104893942
Exacrs104893942
Varsomers104893942
Maprs104893942
PheGenIrs104893942
hapmaprs104893942
1000 genomesrs104893942
hgdprs104893942
ensemblrs104893942
gopubmedrs104893942
geneviewrs104893942
scholarrs104893942
googlers104893942
pharmgkbrs104893942
gwascentralrs104893942
openSNPrs104893942
23andMers104893942
23andMe allrs104893942
SNP Nexus

SNPshotrs104893942
SNPdbers104893942
MSV3drs104893942
GWAS Ctlgrs104893942
Max Magnitude0
OMIM608313
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104893942(G;G)
Alt rs104893942(G;G)
Reference rs104893942(C;C)
Significance Pathogenic
Disease Arginase deficiency
Variation info
Gene MED23 ARG1
CLNDBN Arginase deficiency
Reversed 0
HGVS NC_000006.11:g.131904948C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002490.2,