rs80338763

Orientation

minus

Stabilized

minus

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

Make rs80338763(-;G)

Make rs80338763(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

15239508

Gene

PMP22

is a	snp
is	mentioned by
dbSNP	rs80338763
dbSNP (classic)	rs80338763
ClinGen	rs80338763
ebi	rs80338763
HLI	rs80338763
Exac	rs80338763
Gnomad	rs80338763
Varsome	rs80338763
LitVar	rs80338763
Map	rs80338763
PheGenI	rs80338763
Biobank	rs80338763
1000 genomes	rs80338763
hgdp	rs80338763
ensembl	rs80338763
geneview	rs80338763
scholar	rs80338763
google	rs80338763
pharmgkb	rs80338763
gwascentral	rs80338763
openSNP	rs80338763
23andMe	rs80338763
SNPshot	rs80338763
SNPdbe	rs80338763
MSV3d	rs80338763
GWAS Ctlg	rs80338763

Max Magnitude

0

ClinVar
Risk	rs80338763(G;G)
Alt	rs80338763(G;G)
Reference	Rs80338763(-;-)
Significance	Pathogenic
Disease	Hereditary liability to pressure palsies Charcot-Marie-Tooth disease type 2E Charcot-Marie-Tooth disease
Variation	info
Gene	PMP22
CLNDBN	Hereditary liability to pressure palsies Charcot-Marie-Tooth disease type 2E Charcot-Marie-Tooth disease, type IA
Reversed	1
HGVS	NC_000017.10:g.15142826dupC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008952.4, RCV000033899.2, RCV000201059.1,