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rs121908637

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908637(A;A)
Make rs121908637(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position130466774
GeneASS1
is asnp
is mentioned by
dbSNPrs121908637
dbSNP (classic)rs121908637
ClinGenrs121908637
ebirs121908637
HLIrs121908637
Exacrs121908637
Gnomadrs121908637
Varsomers121908637
LitVarrs121908637
Maprs121908637
PheGenIrs121908637
Biobankrs121908637
1000 genomesrs121908637
hgdprs121908637
ensemblrs121908637
geneviewrs121908637
scholarrs121908637
googlers121908637
pharmgkbrs121908637
gwascentralrs121908637
openSNPrs121908637
23andMers121908637
SNPshotrs121908637
SNPdbers121908637
MSV3drs121908637
GWAS Ctlgrs121908637
Max Magnitude0
OMIM603470
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121908637(A;A)
Alt rs121908637(A;A)
Reference Rs121908637(G;G)
Significance Pathogenic
Disease Citrullinemia type I not specified
Variation info
Gene ASS1
CLNDBN Citrullinemia type I not specified
Reversed 0
HGVS NC_000009.11:g.133342161G>A
CLNSRC HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006697.2, RCV000259104.1,