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rs104894607

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894607(C;C)
Make rs104894607(C;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position44007621
GeneNAGS
is asnp
is mentioned by
dbSNPrs104894607
ebirs104894607
HLIrs104894607
Exacrs104894607
Varsomers104894607
Maprs104894607
PheGenIrs104894607
hapmaprs104894607
1000 genomesrs104894607
hgdprs104894607
ensemblrs104894607
gopubmedrs104894607
geneviewrs104894607
scholarrs104894607
googlers104894607
pharmgkbrs104894607
gwascentralrs104894607
openSNPrs104894607
23andMers104894607
23andMe allrs104894607
SNP Nexus

SNPshotrs104894607
SNPdbers104894607
MSV3drs104894607
GWAS Ctlgrs104894607
Max Magnitude0
OMIM608300
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104894607(A,C;A,C)
Alt rs104894607(A,C;A,C)
Reference rs104894607(G;G)
Significance Pathogenic
Disease Hyperammonemia
Variation info
Gene NAGS
CLNDBN Hyperammonemia, type III
Reversed 0
HGVS NC_000017.10:g.42084989G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002536.3,