rs121909095

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs121909095(C;T)

Make rs121909095(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

10823862

Gene

DNM2

is a	snp
is	mentioned by
dbSNP	rs121909095
dbSNP (classic)	rs121909095
ClinGen	rs121909095
ebi	rs121909095
HLI	rs121909095
Exac	rs121909095
Gnomad	rs121909095
Varsome	rs121909095
LitVar	rs121909095
Map	rs121909095
PheGenI	rs121909095
Biobank	rs121909095
1000 genomes	rs121909095
hgdp	rs121909095
ensembl	rs121909095
geneview	rs121909095
scholar	rs121909095
google	rs121909095
pharmgkb	rs121909095
gwascentral	rs121909095
openSNP	rs121909095
23andMe	rs121909095
SNPshot	rs121909095
SNPdbe	rs121909095
MSV3d	rs121909095
GWAS Ctlg	rs121909095

Merged from

Rs121909096

Max Magnitude

0

OMIM	602378
Desc
Variant	0010
Related	also

ClinVar
Risk	rs121909095(G;G) rs121909095(T;T)
Alt	rs121909095(G;G) rs121909095(T;T)
Reference	Rs121909095(C;C)
Significance	Pathogenic
Disease	Severe X-linked myotubular myopathy Myopathy
Variation	info
Gene	DNM2
CLNDBN	Severe X-linked myotubular myopathy Myopathy, centronuclear
Reversed	0
HGVS	NC_000019.9:g.10934538C>G; NC_000019.9:g.10934538C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007709.2, RCV000007708.2, RCV000145908.1,