rs121912817

Orientation

plus

Stabilized

plus

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

Make rs121912817(G;T)

Make rs121912817(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

49651888

Gene

CHAT

is a	snp
is	mentioned by
dbSNP	rs121912817
dbSNP (classic)	rs121912817
ClinGen	rs121912817
ebi	rs121912817
HLI	rs121912817
Exac	rs121912817
Gnomad	rs121912817
Varsome	rs121912817
LitVar	rs121912817
Map	rs121912817
PheGenI	rs121912817
Biobank	rs121912817
1000 genomes	rs121912817
hgdp	rs121912817
ensembl	rs121912817
geneview	rs121912817
scholar	rs121912817
google	rs121912817
pharmgkb	rs121912817
gwascentral	rs121912817
openSNP	rs121912817
23andMe	rs121912817
SNPshot	rs121912817
SNPdbe	rs121912817
MSV3d	rs121912817
GWAS Ctlg	rs121912817

Max Magnitude

0

OMIM	118490
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121912817(T;T)
Alt	rs121912817(T;T)
Reference	Rs121912817(G;G)
Significance	Pathogenic
Disease	Familial infantile myasthenia
Variation	info
Gene	CHAT
CLNDBN	Familial infantile myasthenia
Reversed	0
HGVS	NC_000010.10:g.50859934G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019060.28,