rs764497513

Orientation

plus

Stabilized

plus

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

Make rs764497513(C;C)

Make rs764497513(C;G)

Reference

GRCh38.p7 38.3/149

Chromosome

10

Position

49620535

Gene

CHAT

is a	snp
is	mentioned by
dbSNP	rs764497513
dbSNP (classic)	rs764497513
ClinGen	rs764497513
ebi	rs764497513
HLI	rs764497513
Exac	rs764497513
Gnomad	rs764497513
Varsome	rs764497513
LitVar	rs764497513
Map	rs764497513
PheGenI	rs764497513
Biobank	rs764497513
1000 genomes	rs764497513
hgdp	rs764497513
ensembl	rs764497513
geneview	rs764497513
scholar	rs764497513
google	rs764497513
pharmgkb	rs764497513
gwascentral	rs764497513
openSNP	rs764497513
23andMe	rs764497513
SNPshot	rs764497513
SNPdbe	rs764497513
MSV3d	rs764497513
GWAS Ctlg	rs764497513

Max Magnitude

0

ClinVar
Risk	rs764497513(A;A) rs764497513(C;C)
Alt	rs764497513(A;A) rs764497513(C;C)
Reference	Rs764497513(G;G)
Significance	Pathogenic
Disease	Familial infantile myasthenia
Variation	info
Gene	CHAT
CLNDBN	Familial infantile myasthenia
Reversed	0
HGVS	NC_000010.10:g.50828581G>A
CLNSRC
CLNACC	RCV000291500.1,