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rs372983141

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs372983141(C;C)
Make rs372983141(C;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position12897788
GeneGCDH
is asnp
is mentioned by
dbSNPrs372983141
ebirs372983141
HLIrs372983141
Exacrs372983141
Varsomers372983141
Maprs372983141
PheGenIrs372983141
hapmaprs372983141
1000 genomesrs372983141
hgdprs372983141
ensemblrs372983141
gopubmedrs372983141
geneviewrs372983141
scholarrs372983141
googlers372983141
pharmgkbrs372983141
gwascentralrs372983141
openSNPrs372983141
23andMers372983141
23andMe allrs372983141
SNP Nexus

SNPshotrs372983141
SNPdbers372983141
MSV3drs372983141
GWAS Ctlgrs372983141
Max Magnitude0
ClinVar
Risk rs372983141(C;C)
Alt rs372983141(C;C)
Reference rs372983141(G;G)
Significance Pathogenic
Disease Glutaric aciduria
Variation info
Gene GCDH
CLNDBN Glutaric aciduria, type 1
Reversed 0
HGVS NC_000019.9:g.13008602G>C
CLNSRC
CLNACC RCV000173983.1,