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rs398122974

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398122974(C;T)
Make rs398122974(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position97852297
GeneASNS
is asnp
is mentioned by
dbSNPrs398122974
ebirs398122974
HLIrs398122974
Exacrs398122974
Varsomers398122974
Maprs398122974
PheGenIrs398122974
hapmaprs398122974
1000 genomesrs398122974
hgdprs398122974
ensemblrs398122974
gopubmedrs398122974
geneviewrs398122974
scholarrs398122974
googlers398122974
pharmgkbrs398122974
gwascentralrs398122974
openSNPrs398122974
23andMers398122974
23andMe allrs398122974
SNP Nexus

SNPshotrs398122974
SNPdbers398122974
MSV3drs398122974
GWAS Ctlgrs398122974
Max Magnitude0
ClinVar
Risk rs398122974(T;T)
Alt rs398122974(T;T)
Reference rs398122974(C;C)
Significance Pathogenic
Disease Asparagine synthetase deficiency Abnormality of neuronal migration
Variation info
Gene ASNS
CLNDBN Asparagine synthetase deficiency Abnormality of neuronal migration
Reversed 1
HGVS NC_000007.13:g.97481609G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000077749.3, RCV000201411.1,