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rs104894605

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894605(C;C)
Make rs104894605(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position44007611
GeneNAGS
is asnp
is mentioned by
dbSNPrs104894605
ebirs104894605
HLIrs104894605
Exacrs104894605
Varsomers104894605
Maprs104894605
PheGenIrs104894605
hapmaprs104894605
1000 genomesrs104894605
hgdprs104894605
ensemblrs104894605
gopubmedrs104894605
geneviewrs104894605
scholarrs104894605
googlers104894605
pharmgkbrs104894605
gwascentralrs104894605
openSNPrs104894605
23andMers104894605
23andMe allrs104894605
SNP Nexus

SNPshotrs104894605
SNPdbers104894605
MSV3drs104894605
GWAS Ctlgrs104894605
Max Magnitude0
OMIM608300
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104894605(C;C)
Alt rs104894605(C;C)
Reference rs104894605(T;T)
Significance Pathogenic
Disease Hyperammonemia
Variation info
Gene NAGS
CLNDBN Hyperammonemia, type III
Reversed 0
HGVS NC_000017.10:g.42084979T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002534.3,