rs121912816

Orientation

plus

Stabilized

plus

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

Make rs121912816(A;A)

Make rs121912816(A;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

49648546

Gene

CHAT

is a	snp
is	mentioned by
dbSNP	rs121912816
dbSNP (classic)	rs121912816
ClinGen	rs121912816
ebi	rs121912816
HLI	rs121912816
Exac	rs121912816
Gnomad	rs121912816
Varsome	rs121912816
LitVar	rs121912816
Map	rs121912816
PheGenI	rs121912816
Biobank	rs121912816
1000 genomes	rs121912816
hgdp	rs121912816
ensembl	rs121912816
geneview	rs121912816
scholar	rs121912816
google	rs121912816
pharmgkb	rs121912816
gwascentral	rs121912816
openSNP	rs121912816
23andMe	rs121912816
SNPshot	rs121912816
SNPdbe	rs121912816
MSV3d	rs121912816
GWAS Ctlg	rs121912816

Merged from

Rs28930070

Max Magnitude

0

OMIM	118490
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121912816(A;A)
Alt	rs121912816(A;A)
Reference	Rs121912816(G;G)
Significance	Pathogenic
Disease	Familial infantile myasthenia
Variation	info
Gene	CHAT
CLNDBN	Familial infantile myasthenia
Reversed	0
HGVS	NC_000010.10:g.50856592G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019059.28,