rs121909090

Orientation

plus

Stabilized

plus

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

Make rs121909090(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

10793832

Gene

DNM2

is a	snp
is	mentioned by
dbSNP	rs121909090
dbSNP (classic)	rs121909090
ClinGen	rs121909090
ebi	rs121909090
HLI	rs121909090
Exac	rs121909090
Gnomad	rs121909090
Varsome	rs121909090
LitVar	rs121909090
Map	rs121909090
PheGenI	rs121909090
Biobank	rs121909090
1000 genomes	rs121909090
hgdp	rs121909090
ensembl	rs121909090
geneview	rs121909090
scholar	rs121909090
google	rs121909090
pharmgkb	rs121909090
gwascentral	rs121909090
openSNP	rs121909090
23andMe	rs121909090
SNPshot	rs121909090
SNPdbe	rs121909090
MSV3d	rs121909090
GWAS Ctlg	rs121909090

Max Magnitude

6

OMIM	602378
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121909090(T;T)
Alt	rs121909090(T;T)
Reference	Rs121909090(C;C)
Significance	Pathogenic
Disease	Myopathy
Variation	info
Gene	DNM2
CLNDBN	Myopathy, centronuclear, 1 Myopathy, centronuclear
Reversed	0
HGVS	NC_000019.9:g.10904508C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007703.2, RCV000145899.1,