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rs761491320

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs761491320(-;-)
Make rs761491320(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position12896417
GeneGCDH
is asnp
is mentioned by
dbSNPrs761491320
dbSNP (classic)rs761491320
ClinGenrs761491320
ebirs761491320
HLIrs761491320
Exacrs761491320
Gnomadrs761491320
Varsomers761491320
LitVarrs761491320
Maprs761491320
PheGenIrs761491320
Biobankrs761491320
1000 genomesrs761491320
hgdprs761491320
ensemblrs761491320
geneviewrs761491320
scholarrs761491320
googlers761491320
pharmgkbrs761491320
gwascentralrs761491320
openSNPrs761491320
23andMers761491320
SNPshotrs761491320
SNPdbers761491320
MSV3drs761491320
GWAS Ctlgrs761491320
Max Magnitude0
ClinVar
Risk rs761491320(-;-)
Alt rs761491320(-;-)
Reference Rs761491320(T;T)
Significance Probable-Pathogenic
Disease Glutaric aciduria
Variation info
Gene GCDH
CLNDBN Glutaric aciduria, type 1
Reversed 0
HGVS NC_000019.9:g.13007231delT
CLNSRC
CLNACC RCV000410398.1,