rs786205087

Orientation

minus

Stabilized

minus

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

Make rs786205087(-;-)

Make rs786205087(-;CT)

Reference

GRCh38.p2 38.2/146

Chromosome

17

Position

15239551

Gene

PMP22

is a	snp
is	mentioned by
dbSNP	rs786205087
dbSNP (classic)	rs786205087
ClinGen	rs786205087
ebi	rs786205087
HLI	rs786205087
Exac	rs786205087
Gnomad	rs786205087
Varsome	rs786205087
LitVar	rs786205087
Map	rs786205087
PheGenI	rs786205087
Biobank	rs786205087
1000 genomes	rs786205087
hgdp	rs786205087
ensembl	rs786205087
geneview	rs786205087
scholar	rs786205087
google	rs786205087
pharmgkb	rs786205087
gwascentral	rs786205087
openSNP	rs786205087
23andMe	rs786205087
SNPshot	rs786205087
SNPdbe	rs786205087
MSV3d	rs786205087
GWAS Ctlg	rs786205087

Max Magnitude

0

ClinVar
Risk	rs786205087(-;-)
Alt	rs786205087(-;-)
Reference	Rs786205087(CT;CT)
Significance	Pathogenic
Disease	Dejerine-Sottas syndrome
Variation	info
Gene	PMP22
CLNDBN	Dejerine-Sottas syndrome, autosomal dominant
Reversed	1
HGVS	NC_000017.10:g.15142868_15142869delAG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008953.4,