rs121909502

Orientation

plus

Stabilized

plus

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

Make rs121909502(C;T)

Make rs121909502(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

232531397

Gene

CHRND

is a	snp
is	mentioned by
dbSNP	rs121909502
dbSNP (classic)	rs121909502
ClinGen	rs121909502
ebi	rs121909502
HLI	rs121909502
Exac	rs121909502
Gnomad	rs121909502
Varsome	rs121909502
LitVar	rs121909502
Map	rs121909502
PheGenI	rs121909502
Biobank	rs121909502
1000 genomes	rs121909502
hgdp	rs121909502
ensembl	rs121909502
geneview	rs121909502
scholar	rs121909502
google	rs121909502
pharmgkb	rs121909502
gwascentral	rs121909502
openSNP	rs121909502
23andMe	rs121909502
SNPshot	rs121909502
SNPdbe	rs121909502
MSV3d	rs121909502
GWAS Ctlg	rs121909502

Max Magnitude

0

OMIM	100720
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121909502(T;T)
Alt	rs121909502(T;T)
Reference	Rs121909502(C;C)
Significance	Pathogenic
Disease	Myasthenic syndrome
Variation	info
Gene	CHRND
CLNDBN	Myasthenic syndrome, congenital, 3a, slow-channel
Reversed	0
HGVS	NC_000002.11:g.233396107C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000020031.28,