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rs776082304

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs776082304(C;T)
Make rs776082304(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position12897859
GeneGCDH
is asnp
is mentioned by
dbSNPrs776082304
ebirs776082304
HLIrs776082304
Exacrs776082304
Varsomers776082304
Maprs776082304
PheGenIrs776082304
hapmaprs776082304
1000 genomesrs776082304
hgdprs776082304
ensemblrs776082304
gopubmedrs776082304
geneviewrs776082304
scholarrs776082304
googlers776082304
pharmgkbrs776082304
gwascentralrs776082304
openSNPrs776082304
23andMers776082304
23andMe allrs776082304
SNP Nexus

SNPshotrs776082304
SNPdbers776082304
MSV3drs776082304
GWAS Ctlgrs776082304
Max Magnitude0
ClinVar
Risk rs776082304(A,T;A,T)
Alt rs776082304(A,T;A,T)
Reference rs776082304(C;C)
Significance Probable-Pathogenic
Disease Glutaric aciduria
Variation info
Gene GCDH
CLNDBN Glutaric aciduria, type 1
Reversed 0
HGVS NC_000019.9:g.13008673C>A
CLNSRC Counsyl
CLNACC RCV000169467.1,