rs121909504

Orientation

plus

Stabilized

plus

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

Make rs121909504(A;A)

Make rs121909504(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

232527440

Gene

CHRND

is a	snp
is	mentioned by
dbSNP	rs121909504
dbSNP (classic)	rs121909504
ClinGen	rs121909504
ebi	rs121909504
HLI	rs121909504
Exac	rs121909504
Gnomad	rs121909504
Varsome	rs121909504
LitVar	rs121909504
Map	rs121909504
PheGenI	rs121909504
Biobank	rs121909504
1000 genomes	rs121909504
hgdp	rs121909504
ensembl	rs121909504
geneview	rs121909504
scholar	rs121909504
google	rs121909504
pharmgkb	rs121909504
gwascentral	rs121909504
openSNP	rs121909504
23andMe	rs121909504
SNPshot	rs121909504
SNPdbe	rs121909504
MSV3d	rs121909504
GWAS Ctlg	rs121909504

Max Magnitude

0

OMIM	100720
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121909504(A;A)
Alt	rs121909504(A;A)
Reference	Rs121909504(G;G)
Significance	Pathogenic
Disease	Myasthenic syndrome
Variation	info
Gene	CHRND
CLNDBN	Myasthenic syndrome, congenital, 3b, fast-channel
Reversed	0
HGVS	NC_000002.11:g.233392150G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000020034.28,