rs797044480

Orientation

plus

Stabilized

plus

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

Make rs797044480(G;T)

Make rs797044480(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

232526549

Gene

CHRND

is a	snp
is	mentioned by
dbSNP	rs797044480
dbSNP (classic)	rs797044480
ClinGen	rs797044480
ebi	rs797044480
HLI	rs797044480
Exac	rs797044480
Gnomad	rs797044480
Varsome	rs797044480
LitVar	rs797044480
Map	rs797044480
PheGenI	rs797044480
Biobank	rs797044480
1000 genomes	rs797044480
hgdp	rs797044480
ensembl	rs797044480
geneview	rs797044480
scholar	rs797044480
google	rs797044480
pharmgkb	rs797044480
gwascentral	rs797044480
openSNP	rs797044480
23andMe	rs797044480
SNPshot	rs797044480
SNPdbe	rs797044480
MSV3d	rs797044480
GWAS Ctlg	rs797044480

Max Magnitude

0

ClinVar
Risk	rs797044480(T;T)
Alt	rs797044480(T;T)
Reference	Rs797044480(G;G)
Significance	Pathogenic
Disease	Congenital myasthenic syndrome 1B
Variation	info
Gene	CHRND
CLNDBN	Congenital myasthenic syndrome 1B, fast-channel
Reversed	0
HGVS	NC_000002.11:g.233391259G>T
CLNSRC
CLNACC	RCV000191950.1,