rs119103268

Orientation

plus

Stabilized

plus

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

Make rs119103268(C;T)

Make rs119103268(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

11992689

Gene

MFN2

is a	snp
is	mentioned by
dbSNP	rs119103268
dbSNP (classic)	rs119103268
ClinGen	rs119103268
ebi	rs119103268
HLI	rs119103268
Exac	rs119103268
Gnomad	rs119103268
Varsome	rs119103268
LitVar	rs119103268
Map	rs119103268
PheGenI	rs119103268
Biobank	rs119103268
1000 genomes	rs119103268
hgdp	rs119103268
ensembl	rs119103268
geneview	rs119103268
scholar	rs119103268
google	rs119103268
pharmgkb	rs119103268
gwascentral	rs119103268
openSNP	rs119103268
23andMe	rs119103268
SNPshot	rs119103268
SNPdbe	rs119103268
MSV3d	rs119103268
GWAS Ctlg	rs119103268

Max Magnitude

0

OMIM	608507
Desc
Variant	0014
Related	also

ClinVar
Risk	rs119103268(T;T)
Alt	rs119103268(T;T)
Reference	Rs119103268(C;C)
Significance	Pathogenic
Disease	Hereditary motor and sensory neuropathy with optic atrophy Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease not provided
Variation	info
Gene	MFN2
CLNDBN	Hereditary motor and sensory neuropathy with optic atrophy Charcot-Marie-Tooth disease, type 2A2 Charcot-Marie-Tooth disease not provided
Reversed	0
HGVS	NC_000001.10:g.12052746C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002370.5, RCV000002371.6, RCV000144872.1, RCV000197230.2,