rs28940296

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in complete genomics

Make rs28940296(G;T)

Make rs28940296(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

11992584

Gene

MFN2

is a	snp
is	mentioned by
dbSNP	rs28940296
dbSNP (classic)	rs28940296
ClinGen	rs28940296
ebi	rs28940296
HLI	rs28940296
Exac	rs28940296
Gnomad	rs28940296
Varsome	rs28940296
LitVar	rs28940296
Map	rs28940296
PheGenI	rs28940296
Biobank	rs28940296
1000 genomes	rs28940296
hgdp	rs28940296
ensembl	rs28940296
geneview	rs28940296
scholar	rs28940296
google	rs28940296
pharmgkb	rs28940296
gwascentral	rs28940296
openSNP	rs28940296
23andMe	rs28940296
SNPshot	rs28940296
SNPdbe	rs28940296
MSV3d	rs28940296
GWAS Ctlg	rs28940296

Max Magnitude

0

OMIM	608507
Desc	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2
Variant	0006
Related	also

ClinVar
Risk	rs28940296(A;A) rs28940296(T;T)
Alt	rs28940296(A;A) rs28940296(T;T)
Reference	Rs28940296(G;G)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease
Variation	info
Gene	MFN2
CLNDBN	Charcot-Marie-Tooth disease, type 2A2
Reversed	0
HGVS	NC_000001.10:g.12052641G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002361.3,