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rs121912591

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912591(A;A)
Make rs121912591(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position44006157
GeneNAGS, PYY
is asnp
is mentioned by
dbSNPrs121912591
dbSNP (classic)rs121912591
ClinGenrs121912591
ebirs121912591
HLIrs121912591
Exacrs121912591
Gnomadrs121912591
Varsomers121912591
LitVarrs121912591
Maprs121912591
PheGenIrs121912591
Biobankrs121912591
1000 genomesrs121912591
hgdprs121912591
ensemblrs121912591
geneviewrs121912591
scholarrs121912591
googlers121912591
pharmgkbrs121912591
gwascentralrs121912591
openSNPrs121912591
23andMers121912591
SNPshotrs121912591
SNPdbers121912591
MSV3drs121912591
GWAS Ctlgrs121912591
Max Magnitude0
OMIM608300
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121912591(A;A)
Alt rs121912591(A;A)
Reference Rs121912591(G;G)
Significance Pathogenic
Disease Hyperammonemia
Variation info
Gene PYY NAGS
CLNDBN Hyperammonemia, type III
Reversed 0
HGVS NC_000017.10:g.42083525G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002533.3,