rs587783594

Orientation

plus

Stabilized

plus

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

Make rs587783594(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

19

Position

10793851

Gene

DNM2

is a	snp
is	mentioned by
dbSNP	rs587783594
dbSNP (classic)	rs587783594
ClinGen	rs587783594
ebi	rs587783594
HLI	rs587783594
Exac	rs587783594
Gnomad	rs587783594
Varsome	rs587783594
LitVar	rs587783594
Map	rs587783594
PheGenI	rs587783594
Biobank	rs587783594
1000 genomes	rs587783594
hgdp	rs587783594
ensembl	rs587783594
geneview	rs587783594
scholar	rs587783594
google	rs587783594
pharmgkb	rs587783594
gwascentral	rs587783594
openSNP	rs587783594
23andMe	rs587783594
SNPshot	rs587783594
SNPdbe	rs587783594
MSV3d	rs587783594
GWAS Ctlg	rs587783594

Max Magnitude

6

ClinVar
Risk	rs587783594(A;A)
Alt	rs587783594(A;A)
Reference	Rs587783594(T;T)
Significance	Probable-Pathogenic
Disease	Myopathy
Variation	info
Gene	DNM2
CLNDBN	Myopathy, centronuclear
Reversed	0
HGVS	NC_000019.9:g.10904527T>A
CLNSRC
CLNACC	RCV000145901.1,