rs121909509

Orientation

plus

Stabilized

plus

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

Make rs121909509(A;A)

Make rs121909509(A;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

232527438

Gene

CHRND

is a	snp
is	mentioned by
dbSNP	rs121909509
dbSNP (classic)	rs121909509
ClinGen	rs121909509
ebi	rs121909509
HLI	rs121909509
Exac	rs121909509
Gnomad	rs121909509
Varsome	rs121909509
LitVar	rs121909509
Map	rs121909509
PheGenI	rs121909509
Biobank	rs121909509
1000 genomes	rs121909509
hgdp	rs121909509
ensembl	rs121909509
geneview	rs121909509
scholar	rs121909509
google	rs121909509
pharmgkb	rs121909509
gwascentral	rs121909509
openSNP	rs121909509
23andMe	rs121909509
SNPshot	rs121909509
SNPdbe	rs121909509
MSV3d	rs121909509
GWAS Ctlg	rs121909509

Max Magnitude

0

OMIM	100720
Desc
Variant	0009
Related	also

ClinVar
Risk	rs121909509(A;A) rs121909509(C;C)
Alt	rs121909509(A;A) rs121909509(C;C)
Reference	Rs121909509(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.233392148T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000020033.28,