rs121909508

Orientation

plus

Stabilized

plus

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

Make rs121909508(C;C)

Make rs121909508(C;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

232526664

Gene

CHRND

is a	snp
is	mentioned by
dbSNP	rs121909508
dbSNP (classic)	rs121909508
ClinGen	rs121909508
ebi	rs121909508
HLI	rs121909508
Exac	rs121909508
Gnomad	rs121909508
Varsome	rs121909508
LitVar	rs121909508
Map	rs121909508
PheGenI	rs121909508
Biobank	rs121909508
1000 genomes	rs121909508
hgdp	rs121909508
ensembl	rs121909508
geneview	rs121909508
scholar	rs121909508
google	rs121909508
pharmgkb	rs121909508
gwascentral	rs121909508
openSNP	rs121909508
23andMe	rs121909508
SNPshot	rs121909508
SNPdbe	rs121909508
MSV3d	rs121909508
GWAS Ctlg	rs121909508

Max Magnitude

0

OMIM	100720
Desc
Variant	0008
Related	also

ClinVar
Risk	rs121909508(C;C)
Alt	rs121909508(C;C)
Reference	Rs121909508(T;T)
Significance	Pathogenic
Disease	Myasthenic syndrome
Variation	info
Gene	CHRND
CLNDBN	Myasthenic syndrome, congenital, 3b, fast-channel
Reversed	0
HGVS	NC_000002.11:g.233391374T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000020039.28,