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rs104893940

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893940(C;T)
Make rs104893940(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position131583810
GeneARG1, MED23
is asnp
is mentioned by
dbSNPrs104893940
ebirs104893940
HLIrs104893940
Exacrs104893940
Varsomers104893940
Maprs104893940
PheGenIrs104893940
hapmaprs104893940
1000 genomesrs104893940
hgdprs104893940
ensemblrs104893940
gopubmedrs104893940
geneviewrs104893940
scholarrs104893940
googlers104893940
pharmgkbrs104893940
gwascentralrs104893940
openSNPrs104893940
23andMers104893940
23andMe allrs104893940
SNP Nexus

SNPshotrs104893940
SNPdbers104893940
MSV3drs104893940
GWAS Ctlgrs104893940
Max Magnitude0
OMIM608313
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104893940(T;T)
Alt rs104893940(T;T)
Reference rs104893940(C;C)
Significance Pathogenic
Disease Arginase deficiency
Variation info
Gene MED23 ARG1
CLNDBN Arginase deficiency
Reversed 0
HGVS NC_000006.11:g.131904950C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002489.2,