rs864622480

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs864622480(A;A)

Make rs864622480(A;C)

Reference

GRCh38.p2 38.2/146

Chromosome

1

Position

11998999

Gene

MFN2

is a	snp
is	mentioned by
dbSNP	rs864622480
dbSNP (classic)	rs864622480
ClinGen	rs864622480
ebi	rs864622480
HLI	rs864622480
Exac	rs864622480
Gnomad	rs864622480
Varsome	rs864622480
LitVar	rs864622480
Map	rs864622480
PheGenI	rs864622480
Biobank	rs864622480
1000 genomes	rs864622480
hgdp	rs864622480
ensembl	rs864622480
geneview	rs864622480
scholar	rs864622480
google	rs864622480
pharmgkb	rs864622480
gwascentral	rs864622480
openSNP	rs864622480
23andMe	rs864622480
SNPshot	rs864622480
SNPdbe	rs864622480
MSV3d	rs864622480
GWAS Ctlg	rs864622480

Max Magnitude

0

aka c.720C>G (p.Phe240Leu) and also c.720C>A (p.Phe240Leu); both are considered pathogenic in ClinVar for Charcot-Marie-Tooth disease, type 2

23andMe name for c.720C>A: i723120

ClinVar
Risk	rs864622480(A;A)
Alt	rs864622480(A;A)
Reference	Rs864622480(C;C)
Significance	Probable-Pathogenic
Disease	Charcot-Marie-Tooth disease
Variation	info
Gene	MFN2
CLNDBN	Charcot-Marie-Tooth disease, type 2
Reversed	0
HGVS	NC_000001.10:g.12059056C>A
CLNSRC
CLNACC	RCV000205521.1,