rs397514453

Orientation

plus

Stabilized

plus

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

Make rs397514453(A;C)

Make rs397514453(C;C)

Reference

GRCh38 38.1/141

Chromosome

10

Position

74525404

Gene	ADK, LOC102723439

is a	snp
is	mentioned by
dbSNP	rs397514453
dbSNP (classic)	rs397514453
ClinGen	rs397514453
ebi	rs397514453
HLI	rs397514453
Exac	rs397514453
Gnomad	rs397514453
Varsome	rs397514453
LitVar	rs397514453
Map	rs397514453
PheGenI	rs397514453
Biobank	rs397514453
1000 genomes	rs397514453
hgdp	rs397514453
ensembl	rs397514453
geneview	rs397514453
scholar	rs397514453
google	rs397514453
pharmgkb	rs397514453
gwascentral	rs397514453
openSNP	rs397514453
23andMe	rs397514453
SNPshot	rs397514453
SNPdbe	rs397514453
MSV3d	rs397514453
GWAS Ctlg	rs397514453

Max Magnitude

0

ClinVar
Risk	rs397514453(C;C)
Alt	rs397514453(C;C)
Reference	Rs397514453(A;A)
Significance	Pathogenic
Disease	Hypermethioninemia due to adenosine kinase deficiency
Variation	info
Gene	ADK LOC102723439
CLNDBN	Hypermethioninemia due to adenosine kinase deficiency
Reversed	0
HGVS	NC_000010.10:g.76285162A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000022444.27,