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rs121908636

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908636(A;A)
Make rs121908636(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position130452268
GeneASS1
is asnp
is mentioned by
dbSNPrs121908636
dbSNP (classic)rs121908636
ClinGenrs121908636
ebirs121908636
HLIrs121908636
Exacrs121908636
Gnomadrs121908636
Varsomers121908636
LitVarrs121908636
Maprs121908636
PheGenIrs121908636
Biobankrs121908636
1000 genomesrs121908636
hgdprs121908636
ensemblrs121908636
geneviewrs121908636
scholarrs121908636
googlers121908636
pharmgkbrs121908636
gwascentralrs121908636
openSNPrs121908636
23andMers121908636
SNPshotrs121908636
SNPdbers121908636
MSV3drs121908636
GWAS Ctlgrs121908636
Max Magnitude0
OMIM603470
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121908636(A;A)
Alt rs121908636(A;A)
Reference Rs121908636(G;G)
Significance Pathogenic
Disease Citrullinemia type I
Variation info
Gene ASS1
CLNDBN Citrullinemia type I
Reversed 0
HGVS NC_000009.11:g.133327655G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006696.2,