rs115117837

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs115117837(C;T)

Make rs115117837(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

10

Position

70884002

Gene

PCBD1

is a	snp
is	mentioned by
dbSNP	rs115117837
dbSNP (classic)	rs115117837
ClinGen	rs115117837
ebi	rs115117837
HLI	rs115117837
Exac	rs115117837
Gnomad	rs115117837
Varsome	rs115117837
LitVar	rs115117837
Map	rs115117837
PheGenI	rs115117837
Biobank	rs115117837
1000 genomes	rs115117837
hgdp	rs115117837
ensembl	rs115117837
geneview	rs115117837
scholar	rs115117837
google	rs115117837
pharmgkb	rs115117837
gwascentral	rs115117837
openSNP	rs115117837
23andMe	rs115117837
SNPshot	rs115117837
SNPdbe	rs115117837
MSV3d	rs115117837
GWAS Ctlg	rs115117837

Max Magnitude

0

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 UniProtKB (protein)
CLNACC	RCV000156929.3,