rs121912815

Orientation

plus

Stabilized

plus

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

Make rs121912815(C;G)

Make rs121912815(G;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

49620546

Gene

CHAT

is a	snp
is	mentioned by
dbSNP	rs121912815
dbSNP (classic)	rs121912815
ClinGen	rs121912815
ebi	rs121912815
HLI	rs121912815
Exac	rs121912815
Gnomad	rs121912815
Varsome	rs121912815
LitVar	rs121912815
Map	rs121912815
PheGenI	rs121912815
Biobank	rs121912815
1000 genomes	rs121912815
hgdp	rs121912815
ensembl	rs121912815
geneview	rs121912815
scholar	rs121912815
google	rs121912815
pharmgkb	rs121912815
gwascentral	rs121912815
openSNP	rs121912815
23andMe	rs121912815
SNPshot	rs121912815
SNPdbe	rs121912815
MSV3d	rs121912815
GWAS Ctlg	rs121912815

Max Magnitude

0

OMIM	118490
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121912815(G;G)
Alt	rs121912815(G;G)
Reference	Rs121912815(C;C)
Significance	Pathogenic
Disease	Familial infantile myasthenia
Variation	info
Gene	CHAT
CLNDBN	Familial infantile myasthenia
Reversed	0
HGVS	NC_000010.10:g.50828592C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019058.28,