rs1057517665

Orientation

plus

Stabilized

plus

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

Make rs1057517665(C;C)

Make rs1057517665(C;G)

Reference

GRCh38.p7 38.3/150

Chromosome

10

Position

49611297

Gene	CHAT, SLC18A3

is a	snp
is	mentioned by
dbSNP	rs1057517665
dbSNP (classic)	rs1057517665
ClinGen	rs1057517665
ebi	rs1057517665
HLI	rs1057517665
Exac	rs1057517665
Gnomad	rs1057517665
Varsome	rs1057517665
LitVar	rs1057517665
Map	rs1057517665
PheGenI	rs1057517665
Biobank	rs1057517665
1000 genomes	rs1057517665
hgdp	rs1057517665
ensembl	rs1057517665
geneview	rs1057517665
scholar	rs1057517665
google	rs1057517665
pharmgkb	rs1057517665
gwascentral	rs1057517665
openSNP	rs1057517665
23andMe	rs1057517665
SNPshot	rs1057517665
SNPdbe	rs1057517665
MSV3d	rs1057517665
GWAS Ctlg	rs1057517665

Max Magnitude

0

ClinVar
Risk	rs1057517665(C;C)
Alt	rs1057517665(C;C)
Reference	Rs1057517665(G;G)
Significance	Pathogenic
Disease	Myasthenic syndrome
Variation	info
Gene	CHAT SLC18A3
CLNDBN	Myasthenic syndrome, congenital, 21, presynaptic
Reversed	0
HGVS	NC_000010.10:g.50819343G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000412561.1,