rs387906990

Orientation

plus

Stabilized

plus

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

Make rs387906990(C;C)

Make rs387906990(C;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

11998817

Gene

MFN2

is a	snp
is	mentioned by
dbSNP	rs387906990
dbSNP (classic)	rs387906990
ClinGen	rs387906990
ebi	rs387906990
HLI	rs387906990
Exac	rs387906990
Gnomad	rs387906990
Varsome	rs387906990
LitVar	rs387906990
Map	rs387906990
PheGenI	rs387906990
Biobank	rs387906990
1000 genomes	rs387906990
hgdp	rs387906990
ensembl	rs387906990
geneview	rs387906990
scholar	rs387906990
google	rs387906990
pharmgkb	rs387906990
gwascentral	rs387906990
openSNP	rs387906990
23andMe	rs387906990
SNPshot	rs387906990
SNPdbe	rs387906990
MSV3d	rs387906990
GWAS Ctlg	rs387906990

Max Magnitude

0

ClinVar
Risk	rs387906990(C;C)
Alt	rs387906990(C;C)
Reference	Rs387906990(T;T)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease not provided 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 2
Reversed	0
HGVS	NC_000001.10:g.12058874T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023714.4, RCV000235670.1, RCV000456775.1,