rs397515456

Orientation

minus

Stabilized

minus

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

Make rs397515456(C;T)

Make rs397515456(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

6469396

Gene

PLEKHG5

is a	snp
is	mentioned by
dbSNP	rs397515456
dbSNP (classic)	rs397515456
ClinGen	rs397515456
ebi	rs397515456
HLI	rs397515456
Exac	rs397515456
Gnomad	rs397515456
Varsome	rs397515456
LitVar	rs397515456
Map	rs397515456
PheGenI	rs397515456
Biobank	rs397515456
1000 genomes	rs397515456
hgdp	rs397515456
ensembl	rs397515456
geneview	rs397515456
scholar	rs397515456
google	rs397515456
pharmgkb	rs397515456
gwascentral	rs397515456
openSNP	rs397515456
23andMe	rs397515456
SNPshot	rs397515456
SNPdbe	rs397515456
MSV3d	rs397515456
GWAS Ctlg	rs397515456

Max Magnitude

0

ClinVar
Risk	rs397515456(T;T)
Alt	rs397515456(T;T)
Reference	Rs397515456(C;C)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease
Variation	info
Gene	PLEKHG5
CLNDBN	Charcot-Marie-Tooth disease, recessive intermediate c
Reversed	1
HGVS	NC_000001.10:g.6529456G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000054547.4,