rs121964986

Orientation

minus

Stabilized

minus

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

Make rs121964986(C;T)

Make rs121964986(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

49419382

Gene

AMT

is a	snp
is	mentioned by
dbSNP	rs121964986
dbSNP (classic)	rs121964986
ClinGen	rs121964986
ebi	rs121964986
HLI	rs121964986
Exac	rs121964986
Gnomad	rs121964986
Varsome	rs121964986
LitVar	rs121964986
Map	rs121964986
PheGenI	rs121964986
Biobank	rs121964986
1000 genomes	rs121964986
hgdp	rs121964986
ensembl	rs121964986
geneview	rs121964986
scholar	rs121964986
google	rs121964986
pharmgkb	rs121964986
gwascentral	rs121964986
openSNP	rs121964986
23andMe	rs121964986
SNPshot	rs121964986
SNPdbe	rs121964986
MSV3d	rs121964986
GWAS Ctlg	rs121964986

Max Magnitude

0

OMIM	238310
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121964986(T;T)
Alt	rs121964986(T;T)
Reference	Rs121964986(C;C)
Significance	Pathogenic
Disease	Non-ketotic hyperglycinemia
Variation	info
Gene	AMT
CLNDBN	Non-ketotic hyperglycinemia
Reversed	1
HGVS	NC_000003.11:g.49456815G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012760.18,