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rs104893948

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893948(A;A)
Make rs104893948(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position131583392
GeneARG1, MED23
is asnp
is mentioned by
dbSNPrs104893948
ebirs104893948
HLIrs104893948
Exacrs104893948
Varsomers104893948
Maprs104893948
PheGenIrs104893948
hapmaprs104893948
1000 genomesrs104893948
hgdprs104893948
ensemblrs104893948
gopubmedrs104893948
geneviewrs104893948
scholarrs104893948
googlers104893948
pharmgkbrs104893948
gwascentralrs104893948
openSNPrs104893948
23andMers104893948
23andMe allrs104893948
SNP Nexus

SNPshotrs104893948
SNPdbers104893948
MSV3drs104893948
GWAS Ctlgrs104893948
Max Magnitude0
OMIM608313
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104893948(A,C;A,C)
Alt rs104893948(A,C;A,C)
Reference rs104893948(G;G)
Significance Pathogenic
Disease Arginase deficiency
Variation info
Gene MED23 ARG1
CLNDBN Arginase deficiency
Reversed 0
HGVS NC_000006.11:g.131904532G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002492.4,