rs747656257

Orientation

plus

Stabilized

plus

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

Make rs747656257(A;A)

Make rs747656257(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

19

Position

1399168

Gene

GAMT

is a	snp
is	mentioned by
dbSNP	rs747656257
dbSNP (classic)	rs747656257
ClinGen	rs747656257
ebi	rs747656257
HLI	rs747656257
Exac	rs747656257
Gnomad	rs747656257
Varsome	rs747656257
LitVar	rs747656257
Map	rs747656257
PheGenI	rs747656257
Biobank	rs747656257
1000 genomes	rs747656257
hgdp	rs747656257
ensembl	rs747656257
geneview	rs747656257
scholar	rs747656257
google	rs747656257
pharmgkb	rs747656257
gwascentral	rs747656257
openSNP	rs747656257
23andMe	rs747656257
SNPshot	rs747656257
SNPdbe	rs747656257
MSV3d	rs747656257
GWAS Ctlg	rs747656257

Max Magnitude

0

ClinVar
Risk	rs747656257(A;A) rs747656257(T;T)
Alt	rs747656257(A;A) rs747656257(T;T)
Reference	Rs747656257(G;G)
Significance	Probable-Pathogenic
Disease	Deficiency of guanidinoacetate methyltransferase
Variation	info
Gene	GAMT
CLNDBN	Deficiency of guanidinoacetate methyltransferase
Reversed	0
HGVS	NC_000019.9:g.1399167G>A; NC_000019.9:g.1399167G>T
CLNSRC
CLNACC	RCV000353046.1, RCV000490258.1,