rs587783595

Orientation

plus

Stabilized

plus

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

Make rs587783595(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

19

Position

10812271

Gene

DNM2

is a	snp
is	mentioned by
dbSNP	rs587783595
dbSNP (classic)	rs587783595
ClinGen	rs587783595
ebi	rs587783595
HLI	rs587783595
Exac	rs587783595
Gnomad	rs587783595
Varsome	rs587783595
LitVar	rs587783595
Map	rs587783595
PheGenI	rs587783595
Biobank	rs587783595
1000 genomes	rs587783595
hgdp	rs587783595
ensembl	rs587783595
geneview	rs587783595
scholar	rs587783595
google	rs587783595
pharmgkb	rs587783595
gwascentral	rs587783595
openSNP	rs587783595
23andMe	rs587783595
SNPshot	rs587783595
SNPdbe	rs587783595
MSV3d	rs587783595
GWAS Ctlg	rs587783595

Max Magnitude

6

ClinVar
Risk	rs587783595(A;A) rs587783595(T;T)
Alt	rs587783595(A;A) rs587783595(T;T)
Reference	Rs587783595(G;G)
Significance	Pathogenic
Disease	Myopathy not provided
Variation	info
Gene	DNM2
CLNDBN	Myopathy, centronuclear not provided
Reversed	0
HGVS	NC_000019.9:g.10922947G>A; NC_000019.9:g.10922947G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000145903.1, RCV000275646.1, RCV000413442.1,