rs121912822

Orientation

plus

Stabilized

plus

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

Make rs121912822(C;T)

Make rs121912822(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

49646651

Gene

CHAT

is a	snp
is	mentioned by
dbSNP	rs121912822
dbSNP (classic)	rs121912822
ClinGen	rs121912822
ebi	rs121912822
HLI	rs121912822
Exac	rs121912822
Gnomad	rs121912822
Varsome	rs121912822
LitVar	rs121912822
Map	rs121912822
PheGenI	rs121912822
Biobank	rs121912822
1000 genomes	rs121912822
hgdp	rs121912822
ensembl	rs121912822
geneview	rs121912822
scholar	rs121912822
google	rs121912822
pharmgkb	rs121912822
gwascentral	rs121912822
openSNP	rs121912822
23andMe	rs121912822
SNPshot	rs121912822
SNPdbe	rs121912822
MSV3d	rs121912822
GWAS Ctlg	rs121912822

Max Magnitude

0

OMIM	118490
Desc
Variant	0010
Related	also

ClinVar
Risk	rs121912822(T;T)
Alt	rs121912822(T;T)
Reference	Rs121912822(C;C)
Significance	Pathogenic
Disease	Familial infantile myasthenia
Variation	info
Gene	CHAT
CLNDBN	Familial infantile myasthenia
Reversed	0
HGVS	NC_000010.10:g.50854697C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019066.28,