rs121909092

Orientation

plus

Stabilized

plus

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

Make rs121909092(A;A)

Reference

GRCh38 38.1/141

Chromosome

19

Position

10793829

Gene

DNM2

is a	snp
is	mentioned by
dbSNP	rs121909092
dbSNP (classic)	rs121909092
ClinGen	rs121909092
ebi	rs121909092
HLI	rs121909092
Exac	rs121909092
Gnomad	rs121909092
Varsome	rs121909092
LitVar	rs121909092
Map	rs121909092
PheGenI	rs121909092
Biobank	rs121909092
1000 genomes	rs121909092
hgdp	rs121909092
ensembl	rs121909092
geneview	rs121909092
scholar	rs121909092
google	rs121909092
pharmgkb	rs121909092
gwascentral	rs121909092
openSNP	rs121909092
23andMe	rs121909092
SNPshot	rs121909092
SNPdbe	rs121909092
MSV3d	rs121909092
GWAS Ctlg	rs121909092

Max Magnitude

6

OMIM	602378
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121909092(A;A)
Alt	rs121909092(A;A)
Reference	Rs121909092(G;G)
Significance	Pathogenic
Disease	Myopathy
Variation	info
Gene	DNM2
CLNDBN	Myopathy, centronuclear, 1 Myopathy, centronuclear
Reversed	0
HGVS	NC_000019.9:g.10904505G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007705.3, RCV000145898.1,