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rs398122973

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398122973(G;G)
Make rs398122973(G;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position97855406
GeneASNS
is asnp
is mentioned by
dbSNPrs398122973
ebirs398122973
HLIrs398122973
Exacrs398122973
Varsomers398122973
Maprs398122973
PheGenIrs398122973
hapmaprs398122973
1000 genomesrs398122973
hgdprs398122973
ensemblrs398122973
gopubmedrs398122973
geneviewrs398122973
scholarrs398122973
googlers398122973
pharmgkbrs398122973
gwascentralrs398122973
openSNPrs398122973
23andMers398122973
23andMe allrs398122973
SNP Nexus

SNPshotrs398122973
SNPdbers398122973
MSV3drs398122973
GWAS Ctlgrs398122973
Max Magnitude0
ClinVar
Risk rs398122973(G;G)
Alt rs398122973(G;G)
Reference rs398122973(T;T)
Significance Pathogenic
Disease Asparagine synthetase deficiency
Variation info
Gene ASNS
CLNDBN Asparagine synthetase deficiency
Reversed 1
HGVS NC_000007.13:g.97484718A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000077748.2,