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rs149120354

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs149120354(C;C)
Make rs149120354(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position12896058
GeneGCDH
is asnp
is mentioned by
dbSNPrs149120354
ebirs149120354
HLIrs149120354
Exacrs149120354
Varsomers149120354
Maprs149120354
PheGenIrs149120354
hapmaprs149120354
1000 genomesrs149120354
hgdprs149120354
ensemblrs149120354
gopubmedrs149120354
geneviewrs149120354
scholarrs149120354
googlers149120354
pharmgkbrs149120354
gwascentralrs149120354
openSNPrs149120354
23andMers149120354
23andMe allrs149120354
SNP Nexus

SNPshotrs149120354
SNPdbers149120354
MSV3drs149120354
GWAS Ctlgrs149120354
Max Magnitude0
ClinVar
Risk rs149120354(C;C)
Alt rs149120354(C;C)
Reference rs149120354(T;T)
Significance Probable-Pathogenic
Disease Glutaric aciduria
Variation info
Gene GCDH
CLNDBN Glutaric aciduria, type 1
Reversed 0
HGVS NC_000019.9:g.13006872T>C
CLNSRC
CLNACC RCV000179723.1,