rs28940291

Orientation

plus

Stabilized

plus

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

Make rs28940291(A;A)

Make rs28940291(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

11992660

Gene

MFN2

is a	snp
is	mentioned by
dbSNP	rs28940291
dbSNP (classic)	rs28940291
ClinGen	rs28940291
ebi	rs28940291
HLI	rs28940291
Exac	rs28940291
Gnomad	rs28940291
Varsome	rs28940291
LitVar	rs28940291
Map	rs28940291
PheGenI	rs28940291
Biobank	rs28940291
1000 genomes	rs28940291
hgdp	rs28940291
ensembl	rs28940291
geneview	rs28940291
scholar	rs28940291
google	rs28940291
pharmgkb	rs28940291
gwascentral	rs28940291
openSNP	rs28940291
23andMe	rs28940291
SNPshot	rs28940291
SNPdbe	rs28940291
MSV3d	rs28940291
GWAS Ctlg	rs28940291

Max Magnitude

0

OMIM	608507
Desc	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2
Variant	0001
Related	also

ClinVar
Risk	rs28940291(A;A)
Alt	rs28940291(A;A)
Reference	Rs28940291(G;G)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease not provided Charcot-Marie-Tooth disease
Variation	info
Gene	MFN2
CLNDBN	Charcot-Marie-Tooth disease, type 2A2 not provided Charcot-Marie-Tooth disease, type 2
Reversed	0
HGVS	NC_000001.10:g.12052717G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002356.4, RCV000286431.1, RCV000463055.1,