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rs121908646

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908646(C;C)
Make rs121908646(C;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position130470873
GeneASS1
is asnp
is mentioned by
dbSNPrs121908646
ebirs121908646
HLIrs121908646
Exacrs121908646
Varsomers121908646
Maprs121908646
PheGenIrs121908646
hapmaprs121908646
1000 genomesrs121908646
hgdprs121908646
ensemblrs121908646
gopubmedrs121908646
geneviewrs121908646
scholarrs121908646
googlers121908646
pharmgkbrs121908646
gwascentralrs121908646
openSNPrs121908646
23andMers121908646
23andMe allrs121908646
SNP Nexus

SNPshotrs121908646
SNPdbers121908646
MSV3drs121908646
GWAS Ctlgrs121908646
GMAF0.0004591
Max Magnitude0
OMIM603470
Desc
Variant0015
Relatedalso
ClinVar
Risk rs121908646(C;C)
Alt rs121908646(C;C)
Reference rs121908646(T;T)
Significance Pathogenic
Disease Citrullinemia
Variation info
Gene ASS1
CLNDBN Citrullinemia, mild
Reversed 0
HGVS NC_000009.11:g.133346260T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000006707.3,