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rs398122975

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398122975(A;A)
Make rs398122975(A;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position97869140
GeneASNS
is asnp
is mentioned by
dbSNPrs398122975
ebirs398122975
HLIrs398122975
Exacrs398122975
Varsomers398122975
Maprs398122975
PheGenIrs398122975
hapmaprs398122975
1000 genomesrs398122975
hgdprs398122975
ensemblrs398122975
gopubmedrs398122975
geneviewrs398122975
scholarrs398122975
googlers398122975
pharmgkbrs398122975
gwascentralrs398122975
openSNPrs398122975
23andMers398122975
23andMe allrs398122975
SNP Nexus

SNPshotrs398122975
SNPdbers398122975
MSV3drs398122975
GWAS Ctlgrs398122975
Max Magnitude0
ClinVar
Risk rs398122975(A,T;A,T)
Alt rs398122975(A,T;A,T)
Reference rs398122975(C;C)
Significance Pathogenic
Disease Asparagine synthetase deficiency
Variation info
Gene ASNS
CLNDBN Asparagine synthetase deficiency
Reversed 1
HGVS NC_000007.13:g.97498452G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000077750.4,