rs121909091

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	6	DNM2-related intermediate Charcot-Marie-Tooth neuropathy

Make rs121909091(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

10798543

Gene

DNM2

is a	snp
is	mentioned by
dbSNP	rs121909091
dbSNP (classic)	rs121909091
ClinGen	rs121909091
ebi	rs121909091
HLI	rs121909091
Exac	rs121909091
Gnomad	rs121909091
Varsome	rs121909091
LitVar	rs121909091
Map	rs121909091
PheGenI	rs121909091
Biobank	rs121909091
1000 genomes	rs121909091
hgdp	rs121909091
ensembl	rs121909091
geneview	rs121909091
scholar	rs121909091
google	rs121909091
pharmgkb	rs121909091
gwascentral	rs121909091
openSNP	rs121909091
23andMe	rs121909091
SNPshot	rs121909091
SNPdbe	rs121909091
MSV3d	rs121909091
GWAS Ctlg	rs121909091

Max Magnitude

6

OMIM	602378
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121909091(T;T)
Alt	rs121909091(T;T)
Reference	Rs121909091(C;C)
Significance	Pathogenic
Disease	Myopathy not provided
Variation	info
Gene	DNM2
CLNDBN	Myopathy, centronuclear, 1 Myopathy, centronuclear not provided
Reversed	0
HGVS	NC_000019.9:g.10909219C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007704.2, RCV000145902.1, RCV000373773.1,