rs28940295

Orientation

plus

Stabilized

plus

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

Make rs28940295(C;G)

Make rs28940295(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

11999030

Gene

MFN2

is a	snp
is	mentioned by
dbSNP	rs28940295
dbSNP (classic)	rs28940295
ClinGen	rs28940295
ebi	rs28940295
HLI	rs28940295
Exac	rs28940295
Gnomad	rs28940295
Varsome	rs28940295
LitVar	rs28940295
Map	rs28940295
PheGenI	rs28940295
Biobank	rs28940295
1000 genomes	rs28940295
hgdp	rs28940295
ensembl	rs28940295
geneview	rs28940295
scholar	rs28940295
google	rs28940295
pharmgkb	rs28940295
gwascentral	rs28940295
openSNP	rs28940295
23andMe	rs28940295
SNPshot	rs28940295
SNPdbe	rs28940295
MSV3d	rs28940295
GWAS Ctlg	rs28940295

Max Magnitude

0

OMIM	608507
Desc	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2
Variant	0005
Related	also

ClinVar
Risk	rs28940295(G;G) rs28940295(T;T)
Alt	rs28940295(G;G) rs28940295(T;T)
Reference	Rs28940295(C;C)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease
Variation	info
Gene	MFN2
CLNDBN	Charcot-Marie-Tooth disease, type 2A2 Charcot-Marie-Tooth disease, type 2
Reversed	0
HGVS	NC_000001.10:g.12059087C>G; NC_000001.10:g.12059087C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002360.3, RCV000464171.1,