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rs11085825

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 1 most likely benign polymorphism
(T;T) 1 most likely benign polymorphism
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position12896644
GeneGCDH
is asnp
is mentioned by
dbSNPrs11085825
dbSNP (classic)rs11085825
ClinGenrs11085825
ebirs11085825
HLIrs11085825
Exacrs11085825
Gnomadrs11085825
Varsomers11085825
LitVarrs11085825
Maprs11085825
PheGenIrs11085825
Biobankrs11085825
1000 genomesrs11085825
hgdprs11085825
ensemblrs11085825
geneviewrs11085825
scholarrs11085825
googlers11085825
pharmgkbrs11085825
gwascentralrs11085825
openSNPrs11085825
23andMers11085825
SNPshotrs11085825
SNPdbers11085825
MSV3drs11085825
GWAS Ctlgrs11085825
Max Magnitude1

aka c.852+223C>T

ClinVar indicates "likely pathogenic" (for glutaric aciduria, type 1) according to a single submitter, but with a population frequency as high as 10% for the minor allele homozygote, this seems very unlikely to be correct and instead this variant is most likely not pathogenic.

? (C;C) (C;T) (T;T) 28


ClinVar
Risk Rs11085825(T;T)
Alt Rs11085825(T;T)
Reference Rs11085825(C;C)
Significance Probable-Pathogenic
Disease Glutaric aciduria
Variation info
Gene GCDH
CLNDBN Glutaric aciduria, type 1
Reversed 0
HGVS NC_000019.9:g.13007458C>T
CLNSRC
CLNACC RCV000207433.1,