rs119103265

Orientation

plus

Stabilized

plus

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

Make rs119103265(C;T)

Make rs119103265(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

12002033

Gene

MFN2

is a	snp
is	mentioned by
dbSNP	rs119103265
dbSNP (classic)	rs119103265
ClinGen	rs119103265
ebi	rs119103265
HLI	rs119103265
Exac	rs119103265
Gnomad	rs119103265
Varsome	rs119103265
LitVar	rs119103265
Map	rs119103265
PheGenI	rs119103265
Biobank	rs119103265
1000 genomes	rs119103265
hgdp	rs119103265
ensembl	rs119103265
geneview	rs119103265
scholar	rs119103265
google	rs119103265
pharmgkb	rs119103265
gwascentral	rs119103265
openSNP	rs119103265
23andMe	rs119103265
SNPshot	rs119103265
SNPdbe	rs119103265
MSV3d	rs119103265
GWAS Ctlg	rs119103265

Max Magnitude

0

OMIM	608507
Desc
Variant	0011
Related	also

ClinVar
Risk	rs119103265(T;T)
Alt	rs119103265(T;T)
Reference	Rs119103265(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, type 2 not provided
Reversed	0
HGVS	NC_000001.10:g.12062090C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002367.5, RCV000023711.7, RCV000195560.2, RCV000198024.3,