rs75466054

Orientation

plus

Stabilized

plus

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

Make rs75466054(C;C)

Make rs75466054(C;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

49625634

Gene

CHAT

is a	snp
is	mentioned by
dbSNP	rs75466054
dbSNP (classic)	rs75466054
ClinGen	rs75466054
ebi	rs75466054
HLI	rs75466054
Exac	rs75466054
Gnomad	rs75466054
Varsome	rs75466054
LitVar	rs75466054
Map	rs75466054
PheGenI	rs75466054
Biobank	rs75466054
1000 genomes	rs75466054
hgdp	rs75466054
ensembl	rs75466054
geneview	rs75466054
scholar	rs75466054
google	rs75466054
pharmgkb	rs75466054
gwascentral	rs75466054
openSNP	rs75466054
23andMe	rs75466054
SNPshot	rs75466054
SNPdbe	rs75466054
MSV3d	rs75466054
GWAS Ctlg	rs75466054

Merged from

Rs28929482

Max Magnitude

0

OMIM	118490
Desc
Variant	0009
Related	also

ClinVar
Risk	rs75466054(C;C) rs75466054(G;G)
Alt	rs75466054(C;C) rs75466054(G;G)
Reference	Rs75466054(T;T)
Significance	Pathogenic
Disease	Familial infantile myasthenia Congenital myasthenic syndrome
Variation	info
Gene	CHAT
CLNDBN	Familial infantile myasthenia Congenital myasthenic syndrome
Reversed	0
HGVS	NC_000010.10:g.50833680T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019065.24, RCV000235033.1,