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rs121908647

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908647(G;T)
Make rs121908647(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position130494981
GeneASS1
is asnp
is mentioned by
dbSNPrs121908647
ebirs121908647
HLIrs121908647
Exacrs121908647
Varsomers121908647
Maprs121908647
PheGenIrs121908647
hapmaprs121908647
1000 genomesrs121908647
hgdprs121908647
ensemblrs121908647
gopubmedrs121908647
geneviewrs121908647
scholarrs121908647
googlers121908647
pharmgkbrs121908647
gwascentralrs121908647
openSNPrs121908647
23andMers121908647
23andMe allrs121908647
SNP Nexus

SNPshotrs121908647
SNPdbers121908647
MSV3drs121908647
GWAS Ctlgrs121908647
Max Magnitude0
OMIM603470
Desc
Variant0016
Relatedalso
ClinVar
Risk rs121908647(T;T)
Alt rs121908647(T;T)
Reference rs121908647(G;G)
Significance Pathogenic
Disease Citrullinemia
Variation info
Gene ASS1
CLNDBN Citrullinemia, mild
Reversed 0
HGVS NC_000009.11:g.133370368G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006708.3,