rs121909272

Orientation

minus

Stabilized

minus

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

Make rs121909272(A;A)

Make rs121909272(A;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

1398980

Gene

GAMT

is a	snp
is	mentioned by
dbSNP	rs121909272
dbSNP (classic)	rs121909272
ClinGen	rs121909272
ebi	rs121909272
HLI	rs121909272
Exac	rs121909272
Gnomad	rs121909272
Varsome	rs121909272
LitVar	rs121909272
Map	rs121909272
PheGenI	rs121909272
Biobank	rs121909272
1000 genomes	rs121909272
hgdp	rs121909272
ensembl	rs121909272
geneview	rs121909272
scholar	rs121909272
google	rs121909272
pharmgkb	rs121909272
gwascentral	rs121909272
openSNP	rs121909272
23andMe	rs121909272
SNPshot	rs121909272
SNPdbe	rs121909272
MSV3d	rs121909272
GWAS Ctlg	rs121909272

Max Magnitude

0

OMIM	601240
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121909272(A;A)
Alt	rs121909272(A;A)
Reference	Rs121909272(G;G)
Significance	Pathogenic
Disease	Deficiency of guanidinoacetate methyltransferase
Variation	info
Gene	GAMT
CLNDBN	Deficiency of guanidinoacetate methyltransferase
Reversed	1
HGVS	NC_000019.9:g.1398979C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008802.4,