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rs104894604

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894604(A;A)
Make rs104894604(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position44006584
GeneNAGS
is asnp
is mentioned by
dbSNPrs104894604
ebirs104894604
HLIrs104894604
Exacrs104894604
Varsomers104894604
Maprs104894604
PheGenIrs104894604
hapmaprs104894604
1000 genomesrs104894604
hgdprs104894604
ensemblrs104894604
gopubmedrs104894604
geneviewrs104894604
scholarrs104894604
googlers104894604
pharmgkbrs104894604
gwascentralrs104894604
openSNPrs104894604
23andMers104894604
23andMe allrs104894604
SNP Nexus

SNPshotrs104894604
SNPdbers104894604
MSV3drs104894604
GWAS Ctlgrs104894604
Max Magnitude0
OMIM608300
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894604(A;A)
Alt rs104894604(A;A)
Reference rs104894604(G;G)
Significance Pathogenic
Disease Hyperammonemia
Variation info
Gene NAGS
CLNDBN Hyperammonemia, type III
Reversed 0
HGVS NC_000017.10:g.42083952G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002530.3,