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rs115117837

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs115117837(C;T)
Make rs115117837(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome10
Position70884002
GenePCBD1
is asnp
is mentioned by
dbSNPrs115117837
ebirs115117837
HLIrs115117837
Exacrs115117837
Varsomers115117837
Maprs115117837
PheGenIrs115117837
hapmaprs115117837
1000 genomesrs115117837
hgdprs115117837
ensemblrs115117837
gopubmedrs115117837
geneviewrs115117837
scholarrs115117837
googlers115117837
pharmgkbrs115117837
gwascentralrs115117837
openSNPrs115117837
23andMers115117837
23andMe allrs115117837
SNP Nexus

SNPshotrs115117837
SNPdbers115117837
MSV3drs115117837
GWAS Ctlgrs115117837
Max Magnitude0
ClinVar
Risk rs115117837(T;T)
Alt rs115117837(T;T)
Reference rs115117837(C;C)
Significance Pathogenic
Disease Hyperphenylalaninemia
Variation info
Gene PCBD1
CLNDBN Hyperphenylalaninemia, BH4-deficient, D
Reversed 0
HGVS NC_000010.10:g.72643759C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000156929.3,