rs121907888

Orientation

plus

Stabilized

plus

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

Make rs121907888(C;C)

Make rs121907888(C;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

42960916

Gene	CNPY3-GNMT, GNMT

is a	snp
is	mentioned by
dbSNP	rs121907888
dbSNP (classic)	rs121907888
ClinGen	rs121907888
ebi	rs121907888
HLI	rs121907888
Exac	rs121907888
Gnomad	rs121907888
Varsome	rs121907888
LitVar	rs121907888
Map	rs121907888
PheGenI	rs121907888
Biobank	rs121907888
1000 genomes	rs121907888
hgdp	rs121907888
ensembl	rs121907888
geneview	rs121907888
scholar	rs121907888
google	rs121907888
pharmgkb	rs121907888
gwascentral	rs121907888
openSNP	rs121907888
23andMe	rs121907888
SNPshot	rs121907888
SNPdbe	rs121907888
MSV3d	rs121907888
GWAS Ctlg	rs121907888

Max Magnitude

0

OMIM	606628
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121907888(C;C)
Alt	rs121907888(C;C)
Reference	Rs121907888(T;T)
Significance	Pathogenic
Disease	Glycine N-methyltransferase deficiency
Variation	info
Gene	CNPY3-GNMT GNMT
CLNDBN	Glycine N-methyltransferase deficiency
Reversed	0
HGVS	NC_000006.11:g.42928654T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004386.3,