rs587776513

Orientation

plus

Stabilized

plus

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

Make rs587776513(-;C)

Make rs587776513(C;C)

Reference

GRCh38 38.1/142

Chromosome

17

Position

63606397

Gene

TACO1

is a	snp
is	mentioned by
dbSNP	rs587776513
dbSNP (classic)	rs587776513
ClinGen	rs587776513
ebi	rs587776513
HLI	rs587776513
Exac	rs587776513
Gnomad	rs587776513
Varsome	rs587776513
LitVar	rs587776513
Map	rs587776513
PheGenI	rs587776513
Biobank	rs587776513
1000 genomes	rs587776513
hgdp	rs587776513
ensembl	rs587776513
geneview	rs587776513
scholar	rs587776513
google	rs587776513
pharmgkb	rs587776513
gwascentral	rs587776513
openSNP	rs587776513
23andMe	rs587776513
SNPshot	rs587776513
SNPdbe	rs587776513
MSV3d	rs587776513
GWAS Ctlg	rs587776513

Max Magnitude

0

ClinVar
Risk	rs587776513(C;C)
Alt	rs587776513(C;C)
Reference	Rs587776513(-;-)
Significance	Pathogenic
Disease	Congenital myasthenic syndrome
Variation	info
Gene	TACO1
CLNDBN	Congenital myasthenic syndrome, acetazolamide-responsive
Reversed	0
HGVS	NC_000017.10:g.61683757dupC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000439.4,