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rs869025300

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869025300(-;-)
Make rs869025300(-;CTATGATCATC)
Make rs869025300(CTATGATCATC;CTATGATCATC)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position12896364
GeneGCDH
is asnp
is mentioned by
dbSNPrs869025300
ebirs869025300
HLIrs869025300
Exacrs869025300
Varsomers869025300
Maprs869025300
PheGenIrs869025300
hapmaprs869025300
1000 genomesrs869025300
hgdprs869025300
ensemblrs869025300
gopubmedrs869025300
geneviewrs869025300
scholarrs869025300
googlers869025300
pharmgkbrs869025300
gwascentralrs869025300
openSNPrs869025300
23andMers869025300
23andMe allrs869025300
SNP Nexus

SNPshotrs869025300
SNPdbers869025300
MSV3drs869025300
GWAS Ctlgrs869025300
Max Magnitude0
ClinVar
Risk rs869025300(CCTAGGACCACTTC,CGATCGTGGAA;CCTAGGACCACTTC,CGATCGTGGAA)
Alt rs869025300(CCTAGGACCACTTC,CGATCGTGGAA;CCTAGGACCACTTC,CGATCGTGGAA)
Reference rs869025300(C;C)
Significance Pathogenic
Disease Glutaric aciduria
Variation info
Gene GCDH
CLNDBN Glutaric aciduria, type 1
Reversed 0
HGVS NC_000019.9:g.13007178_13007179insCTATGATCATC
CLNSRC
CLNACC RCV000207382.1,