rs121912823

Orientation

plus

Stabilized

plus

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

Make rs121912823(C;C)

Make rs121912823(C;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

49627681

Gene

CHAT

is a	snp
is	mentioned by
dbSNP	rs121912823
dbSNP (classic)	rs121912823
ClinGen	rs121912823
ebi	rs121912823
HLI	rs121912823
Exac	rs121912823
Gnomad	rs121912823
Varsome	rs121912823
LitVar	rs121912823
Map	rs121912823
PheGenI	rs121912823
Biobank	rs121912823
1000 genomes	rs121912823
hgdp	rs121912823
ensembl	rs121912823
geneview	rs121912823
scholar	rs121912823
google	rs121912823
pharmgkb	rs121912823
gwascentral	rs121912823
openSNP	rs121912823
23andMe	rs121912823
SNPshot	rs121912823
SNPdbe	rs121912823
MSV3d	rs121912823
GWAS Ctlg	rs121912823

Max Magnitude

0

OMIM	118490
Desc
Variant	0011
Related	also

ClinVar
Risk	rs121912823(C;C)
Alt	rs121912823(C;C)
Reference	Rs121912823(T;T)
Significance	Pathogenic
Disease	Familial infantile myasthenia
Variation	info
Gene	CHAT
CLNDBN	Familial infantile myasthenia
Reversed	0
HGVS	NC_000010.10:g.50835727T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019067.29,