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rs121908642

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908642(C;T)
Make rs121908642(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position130489404
GeneASS1
is asnp
is mentioned by
dbSNPrs121908642
dbSNP (classic)rs121908642
ClinGenrs121908642
ebirs121908642
HLIrs121908642
Exacrs121908642
Gnomadrs121908642
Varsomers121908642
LitVarrs121908642
Maprs121908642
PheGenIrs121908642
Biobankrs121908642
1000 genomesrs121908642
hgdprs121908642
ensemblrs121908642
geneviewrs121908642
scholarrs121908642
googlers121908642
pharmgkbrs121908642
gwascentralrs121908642
openSNPrs121908642
23andMers121908642
SNPshotrs121908642
SNPdbers121908642
MSV3drs121908642
GWAS Ctlgrs121908642
Max Magnitude0
OMIM603470
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121908642(T;T)
Alt rs121908642(T;T)
Reference Rs121908642(C;C)
Significance Pathogenic
Disease Citrullinemia type I
Variation info
Gene ASS1
CLNDBN Citrullinemia type I
Reversed 0
HGVS NC_000009.11:g.133364791C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006702.3,