rs119103267

Orientation

plus

Stabilized

plus

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

Make rs119103267(C;T)

Make rs119103267(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

12009641

Gene

MFN2

is a	snp
is	mentioned by
dbSNP	rs119103267
dbSNP (classic)	rs119103267
ClinGen	rs119103267
ebi	rs119103267
HLI	rs119103267
Exac	rs119103267
Gnomad	rs119103267
Varsome	rs119103267
LitVar	rs119103267
Map	rs119103267
PheGenI	rs119103267
Biobank	rs119103267
1000 genomes	rs119103267
hgdp	rs119103267
ensembl	rs119103267
geneview	rs119103267
scholar	rs119103267
google	rs119103267
pharmgkb	rs119103267
gwascentral	rs119103267
openSNP	rs119103267
23andMe	rs119103267
SNPshot	rs119103267
SNPdbe	rs119103267
MSV3d	rs119103267
GWAS Ctlg	rs119103267

GMAF

0.0004591

Max Magnitude

0

OMIM	608507
Desc
Variant	0013
Related	also

ClinVar
Risk	rs119103267(T;T)
Alt	rs119103267(T;T)
Reference	Rs119103267(C;C)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease not provided Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease
Variation	info
Gene	MFN2
CLNDBN	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b not provided Charcot-Marie-Tooth disease, type 2A2 Charcot-Marie-Tooth disease, type 2
Reversed	0
HGVS	NC_000001.10:g.12069698C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002369.4, RCV000199654.3, RCV000239892.1, RCV000472857.1,