rs28940293

Orientation

plus

Stabilized

plus

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

Make rs28940293(C;C)

Make rs28940293(C;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

11992606

Gene

MFN2

is a	snp
is	mentioned by
dbSNP	rs28940293
dbSNP (classic)	rs28940293
ClinGen	rs28940293
ebi	rs28940293
HLI	rs28940293
Exac	rs28940293
Gnomad	rs28940293
Varsome	rs28940293
LitVar	rs28940293
Map	rs28940293
PheGenI	rs28940293
Biobank	rs28940293
1000 genomes	rs28940293
hgdp	rs28940293
ensembl	rs28940293
geneview	rs28940293
scholar	rs28940293
google	rs28940293
pharmgkb	rs28940293
gwascentral	rs28940293
openSNP	rs28940293
23andMe	rs28940293
SNPshot	rs28940293
SNPdbe	rs28940293
MSV3d	rs28940293
GWAS Ctlg	rs28940293

Max Magnitude

0

OMIM	608507
Desc	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2
Variant	0003
Related	also

ClinVar
Risk	rs28940293(C;C) rs28940293(G;G)
Alt	rs28940293(C;C) rs28940293(G;G)
Reference	Rs28940293(T;T)
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.12052663T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002358.4, RCV000200837.3,