rs28940292

Orientation

plus

Stabilized

plus

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

Make rs28940292(C;C)

Make rs28940292(C;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

12011510

Gene

MFN2

is a	snp
is	mentioned by
dbSNP	rs28940292
dbSNP (classic)	rs28940292
ClinGen	rs28940292
ebi	rs28940292
HLI	rs28940292
Exac	rs28940292
Gnomad	rs28940292
Varsome	rs28940292
LitVar	rs28940292
Map	rs28940292
PheGenI	rs28940292
Biobank	rs28940292
1000 genomes	rs28940292
hgdp	rs28940292
ensembl	rs28940292
geneview	rs28940292
scholar	rs28940292
google	rs28940292
pharmgkb	rs28940292
gwascentral	rs28940292
openSNP	rs28940292
23andMe	rs28940292
SNPshot	rs28940292
SNPdbe	rs28940292
MSV3d	rs28940292
GWAS Ctlg	rs28940292

Max Magnitude

0

OMIM	608507
Desc	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2
Variant	0002
Related	also

ClinVar
Risk	rs28940292(C;C)
Alt	rs28940292(C;C)
Reference	Rs28940292(G;G)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease not provided
Variation	info
Gene	MFN2
CLNDBN	Charcot-Marie-Tooth disease, type 2A2 Charcot-Marie-Tooth disease, type 2 not provided
Reversed	0
HGVS	NC_000001.10:g.12071567G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002357.5, RCV000197403.4, RCV000235811.2,