rs121909088

Orientation

plus

Stabilized

plus

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

Make rs121909088(A;G)

Make rs121909088(G;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

10819992

Gene

DNM2

is a	snp
is	mentioned by
dbSNP	rs121909088
dbSNP (classic)	rs121909088
ClinGen	rs121909088
ebi	rs121909088
HLI	rs121909088
Exac	rs121909088
Gnomad	rs121909088
Varsome	rs121909088
LitVar	rs121909088
Map	rs121909088
PheGenI	rs121909088
Biobank	rs121909088
1000 genomes	rs121909088
hgdp	rs121909088
ensembl	rs121909088
geneview	rs121909088
scholar	rs121909088
google	rs121909088
pharmgkb	rs121909088
gwascentral	rs121909088
openSNP	rs121909088
23andMe	rs121909088
SNPshot	rs121909088
SNPdbe	rs121909088
MSV3d	rs121909088
GWAS Ctlg	rs121909088

Max Magnitude

0

OMIM	602378
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121909088(G;G)
Alt	rs121909088(G;G)
Reference	Rs121909088(A;A)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease
Variation	info
Gene	DNM2
CLNDBN	Charcot-Marie-Tooth disease, dominant intermediate b, with neutropenia
Reversed	0
HGVS	NC_000019.9:g.10930668A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007700.2,