rs28940294

Orientation

plus

Stabilized

plus

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

Make rs28940294(A;A)

Make rs28940294(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

12001423

Gene

MFN2

is a	snp
is	mentioned by
dbSNP	rs28940294
dbSNP (classic)	rs28940294
ClinGen	rs28940294
ebi	rs28940294
HLI	rs28940294
Exac	rs28940294
Gnomad	rs28940294
Varsome	rs28940294
LitVar	rs28940294
Map	rs28940294
PheGenI	rs28940294
Biobank	rs28940294
1000 genomes	rs28940294
hgdp	rs28940294
ensembl	rs28940294
geneview	rs28940294
scholar	rs28940294
google	rs28940294
pharmgkb	rs28940294
gwascentral	rs28940294
openSNP	rs28940294
23andMe	rs28940294
SNPshot	rs28940294
SNPdbe	rs28940294
MSV3d	rs28940294
GWAS Ctlg	rs28940294

Max Magnitude

0

OMIM	608507
Desc	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2
Variant	0004
Related	also

ClinVar
Risk	rs28940294(A;A)
Alt	rs28940294(A;A)
Reference	Rs28940294(G;G)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease not provided
Variation	info
Gene	MFN2
CLNDBN	Charcot-Marie-Tooth disease, type 2A2 not provided
Reversed	0
HGVS	NC_000001.10:g.12061480G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002359.5, RCV000236600.1,