rs397514454

Orientation

plus

Stabilized

plus

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

Make rs397514454(A;A)

Make rs397514454(A;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

74200787

Gene

ADK

is a	snp
is	mentioned by
dbSNP	rs397514454
dbSNP (classic)	rs397514454
ClinGen	rs397514454
ebi	rs397514454
HLI	rs397514454
Exac	rs397514454
Gnomad	rs397514454
Varsome	rs397514454
LitVar	rs397514454
Map	rs397514454
PheGenI	rs397514454
Biobank	rs397514454
1000 genomes	rs397514454
hgdp	rs397514454
ensembl	rs397514454
geneview	rs397514454
scholar	rs397514454
google	rs397514454
pharmgkb	rs397514454
gwascentral	rs397514454
openSNP	rs397514454
23andMe	rs397514454
SNPshot	rs397514454
SNPdbe	rs397514454
MSV3d	rs397514454
GWAS Ctlg	rs397514454

Max Magnitude

0

ClinVar
Risk	rs397514454(A;A)
Alt	rs397514454(A;A)
Reference	Rs397514454(G;G)
Significance	Pathogenic
Disease	Hypermethioninemia due to adenosine kinase deficiency
Variation	info
Gene	ADK
CLNDBN	Hypermethioninemia due to adenosine kinase deficiency
Reversed	0
HGVS	NC_000010.10:g.75960545G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000022445.26,