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rs749452002

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs749452002(A;A)
Make rs749452002(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position12896018
GeneGCDH
is asnp
is mentioned by
dbSNPrs749452002
dbSNP (classic)rs749452002
ClinGenrs749452002
ebirs749452002
HLIrs749452002
Exacrs749452002
Gnomadrs749452002
Varsomers749452002
LitVarrs749452002
Maprs749452002
PheGenIrs749452002
Biobankrs749452002
1000 genomesrs749452002
hgdprs749452002
ensemblrs749452002
geneviewrs749452002
scholarrs749452002
googlers749452002
pharmgkbrs749452002
gwascentralrs749452002
openSNPrs749452002
23andMers749452002
SNPshotrs749452002
SNPdbers749452002
MSV3drs749452002
GWAS Ctlgrs749452002
Max Magnitude0
ClinVar
Risk rs749452002(A;A)
Alt rs749452002(A;A)
Reference Rs749452002(G;G)
Significance Probable-Pathogenic
Disease Glutaric aciduria
Variation info
Gene GCDH
CLNDBN Glutaric aciduria, type 1
Reversed 0
HGVS NC_000019.9:g.13006832G>A
CLNSRC
CLNACC RCV000409563.1,