rs121909089

Orientation

plus

Stabilized

plus

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

Make rs121909089(A;A)

Reference

GRCh38 38.1/141

Chromosome

19

Position

10793833

Gene

DNM2

is a	snp
is	mentioned by
dbSNP	rs121909089
dbSNP (classic)	rs121909089
ClinGen	rs121909089
ebi	rs121909089
HLI	rs121909089
Exac	rs121909089
Gnomad	rs121909089
Varsome	rs121909089
LitVar	rs121909089
Map	rs121909089
PheGenI	rs121909089
Biobank	rs121909089
1000 genomes	rs121909089
hgdp	rs121909089
ensembl	rs121909089
geneview	rs121909089
scholar	rs121909089
google	rs121909089
pharmgkb	rs121909089
gwascentral	rs121909089
openSNP	rs121909089
23andMe	rs121909089
SNPshot	rs121909089
SNPdbe	rs121909089
MSV3d	rs121909089
GWAS Ctlg	rs121909089

Max Magnitude

6

OMIM	602378
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121909089(A;A) rs121909089(T;T)
Alt	rs121909089(A;A) rs121909089(T;T)
Reference	Rs121909089(G;G)
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.10904509G>A; NC_000019.9:g.10904509G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007702.3, RCV000145900.1, RCV000236677.1,