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rs777201305

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs777201305(A;A)
Make rs777201305(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position12893630
GeneGCDH
is asnp
is mentioned by
dbSNPrs777201305
ebirs777201305
HLIrs777201305
Exacrs777201305
Varsomers777201305
Maprs777201305
PheGenIrs777201305
hapmaprs777201305
1000 genomesrs777201305
hgdprs777201305
ensemblrs777201305
gopubmedrs777201305
geneviewrs777201305
scholarrs777201305
googlers777201305
pharmgkbrs777201305
gwascentralrs777201305
openSNPrs777201305
23andMers777201305
23andMe allrs777201305
SNP Nexus

SNPshotrs777201305
SNPdbers777201305
MSV3drs777201305
GWAS Ctlgrs777201305
Max Magnitude0
ClinVar
Risk rs777201305(A;A)
Alt rs777201305(A;A)
Reference rs777201305(G;G)
Significance Probable-Pathogenic
Disease Glutaric aciduria
Variation info
Gene GCDH
CLNDBN Glutaric aciduria, type 1
Reversed 0
HGVS NC_000019.9:g.13004444G>A
CLNSRC Counsyl
CLNACC RCV000169118.1,