rs387906991

Orientation

plus

Stabilized

plus

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

Make rs387906991(C;T)

Make rs387906991(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

12002028

Gene

MFN2

is a	snp
is	mentioned by
dbSNP	rs387906991
dbSNP (classic)	rs387906991
ClinGen	rs387906991
ebi	rs387906991
HLI	rs387906991
Exac	rs387906991
Gnomad	rs387906991
Varsome	rs387906991
LitVar	rs387906991
Map	rs387906991
PheGenI	rs387906991
Biobank	rs387906991
1000 genomes	rs387906991
hgdp	rs387906991
ensembl	rs387906991
geneview	rs387906991
scholar	rs387906991
google	rs387906991
pharmgkb	rs387906991
gwascentral	rs387906991
openSNP	rs387906991
23andMe	rs387906991
SNPshot	rs387906991
SNPdbe	rs387906991
MSV3d	rs387906991
GWAS Ctlg	rs387906991

Max Magnitude

0

ClinVar
Risk	rs387906991(G;G) rs387906991(T;T)
Alt	rs387906991(G;G) rs387906991(T;T)
Reference	Rs387906991(C;C)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease
Variation	info
Gene	MFN2
CLNDBN	Charcot-Marie-Tooth disease, type 2 Charcot-Marie-Tooth disease, type 2A2 Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b
Reversed	0
HGVS	NC_000001.10:g.12062085C>G; NC_000001.10:g.12062085C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000458626.1, RCV000023716.4, RCV000240513.1,