rs1057517666

Orientation

plus

Stabilized

plus

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

Make rs1057517666(C;C)

Make rs1057517666(C;G)

Reference

GRCh38.p7 38.3/150

Chromosome

10

Position

49611932

Gene	CHAT, SLC18A3

is a	snp
is	mentioned by
dbSNP	rs1057517666
dbSNP (classic)	rs1057517666
ClinGen	rs1057517666
ebi	rs1057517666
HLI	rs1057517666
Exac	rs1057517666
Gnomad	rs1057517666
Varsome	rs1057517666
LitVar	rs1057517666
Map	rs1057517666
PheGenI	rs1057517666
Biobank	rs1057517666
1000 genomes	rs1057517666
hgdp	rs1057517666
ensembl	rs1057517666
geneview	rs1057517666
scholar	rs1057517666
google	rs1057517666
pharmgkb	rs1057517666
gwascentral	rs1057517666
openSNP	rs1057517666
23andMe	rs1057517666
SNPshot	rs1057517666
SNPdbe	rs1057517666
MSV3d	rs1057517666
GWAS Ctlg	rs1057517666

Max Magnitude

0

ClinVar
Risk	rs1057517666(C;C)
Alt	rs1057517666(C;C)
Reference	Rs1057517666(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.50819978G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000412646.1,