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rs727505360

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727505360(G;T)
Make rs727505360(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome10
Position70885854
GenePCBD1
is asnp
is mentioned by
dbSNPrs727505360
ebirs727505360
HLIrs727505360
Exacrs727505360
Varsomers727505360
Maprs727505360
PheGenIrs727505360
hapmaprs727505360
1000 genomesrs727505360
hgdprs727505360
ensemblrs727505360
gopubmedrs727505360
geneviewrs727505360
scholarrs727505360
googlers727505360
pharmgkbrs727505360
gwascentralrs727505360
openSNPrs727505360
23andMers727505360
23andMe allrs727505360
SNP Nexus

SNPshotrs727505360
SNPdbers727505360
MSV3drs727505360
GWAS Ctlgrs727505360
Max Magnitude0
ClinVar
Risk rs727505360(T;T)
Alt rs727505360(T;T)
Reference rs727505360(G;G)
Significance Pathogenic
Disease Hyperphenylalaninemia
Variation info
Gene PCBD1
CLNDBN Hyperphenylalaninemia, BH4-deficient, D
Reversed 1
HGVS NC_000010.10:g.72645611C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000156929.3,