rs121912818

Orientation

plus

Stabilized

plus

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

Make rs121912818(A;G)

Make rs121912818(G;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

49649569

Gene

CHAT

is a	snp
is	mentioned by
dbSNP	rs121912818
dbSNP (classic)	rs121912818
ClinGen	rs121912818
ebi	rs121912818
HLI	rs121912818
Exac	rs121912818
Gnomad	rs121912818
Varsome	rs121912818
LitVar	rs121912818
Map	rs121912818
PheGenI	rs121912818
Biobank	rs121912818
1000 genomes	rs121912818
hgdp	rs121912818
ensembl	rs121912818
geneview	rs121912818
scholar	rs121912818
google	rs121912818
pharmgkb	rs121912818
gwascentral	rs121912818
openSNP	rs121912818
23andMe	rs121912818
SNPshot	rs121912818
SNPdbe	rs121912818
MSV3d	rs121912818
GWAS Ctlg	rs121912818

Merged from

Rs28929481

Max Magnitude

0

OMIM	118490
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121912818(C;C) rs121912818(G;G)
Alt	rs121912818(C;C) rs121912818(G;G)
Reference	Rs121912818(A;A)
Significance	Pathogenic
Disease	Familial infantile myasthenia
Variation	info
Gene	CHAT
CLNDBN	Familial infantile myasthenia
Reversed	0
HGVS	NC_000010.10:g.50857615A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019061.24,