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rs121908644

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908644(C;T)
Make rs121908644(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position130458482
GeneASS1
is asnp
is mentioned by
dbSNPrs121908644
dbSNP (classic)rs121908644
ClinGenrs121908644
ebirs121908644
HLIrs121908644
Exacrs121908644
Gnomadrs121908644
Varsomers121908644
LitVarrs121908644
Maprs121908644
PheGenIrs121908644
Biobankrs121908644
1000 genomesrs121908644
hgdprs121908644
ensemblrs121908644
geneviewrs121908644
scholarrs121908644
googlers121908644
pharmgkbrs121908644
gwascentralrs121908644
openSNPrs121908644
23andMers121908644
SNPshotrs121908644
SNPdbers121908644
MSV3drs121908644
GWAS Ctlgrs121908644
Max Magnitude0
OMIM603470
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121908644(T;T)
Alt rs121908644(T;T)
Reference Rs121908644(C;C)
Significance Pathogenic
Disease Citrullinemia type I
Variation info
Gene ASS1
CLNDBN Citrullinemia type I
Reversed 0
HGVS NC_000009.11:g.133333869C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006704.3,