rs121912820

Orientation

plus

Stabilized

plus

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

Make rs121912820(C;C)

Make rs121912820(C;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

49620544

Gene

CHAT

is a	snp
is	mentioned by
dbSNP	rs121912820
dbSNP (classic)	rs121912820
ClinGen	rs121912820
ebi	rs121912820
HLI	rs121912820
Exac	rs121912820
Gnomad	rs121912820
Varsome	rs121912820
LitVar	rs121912820
Map	rs121912820
PheGenI	rs121912820
Biobank	rs121912820
1000 genomes	rs121912820
hgdp	rs121912820
ensembl	rs121912820
geneview	rs121912820
scholar	rs121912820
google	rs121912820
pharmgkb	rs121912820
gwascentral	rs121912820
openSNP	rs121912820
23andMe	rs121912820
SNPshot	rs121912820
SNPdbe	rs121912820
MSV3d	rs121912820
GWAS Ctlg	rs121912820

Merged from

Rs28930071

Max Magnitude

0

OMIM	118490
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121912820(C;C)
Alt	rs121912820(C;C)
Reference	Rs121912820(T;T)
Significance	Pathogenic
Disease	Familial infantile myasthenia
Variation	info
Gene	CHAT
CLNDBN	Familial infantile myasthenia
Reversed	0
HGVS	NC_000010.10:g.50828590T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019063.28,