rs181134220

Orientation

plus

Stabilized

plus

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

Make rs181134220(C;T)

Make rs181134220(T;T)

Reference

GRCh38 38.1/142

Chromosome

3

Position

49417974

Gene

AMT

is a	snp
is	mentioned by
dbSNP	rs181134220
dbSNP (classic)	rs181134220
ClinGen	rs181134220
ebi	rs181134220
HLI	rs181134220
Exac	rs181134220
Gnomad	rs181134220
Varsome	rs181134220
LitVar	rs181134220
Map	rs181134220
PheGenI	rs181134220
Biobank	rs181134220
1000 genomes	rs181134220
hgdp	rs181134220
ensembl	rs181134220
geneview	rs181134220
scholar	rs181134220
google	rs181134220
pharmgkb	rs181134220
gwascentral	rs181134220
openSNP	rs181134220
23andMe	rs181134220
SNPshot	rs181134220
SNPdbe	rs181134220
MSV3d	rs181134220
GWAS Ctlg	rs181134220

Max Magnitude

0

ClinVar
Risk	rs181134220(T;T)
Alt	rs181134220(T;T)
Reference	Rs181134220(C;C)
Significance	Pathogenic
Disease	Non-ketotic hyperglycinemia
Variation	info
Gene	AMT
CLNDBN	Non-ketotic hyperglycinemia
Reversed	0
HGVS	NC_000003.11:g.49455407C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012761.25,