rs786205112

Orientation

minus

Stabilized

minus

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

Make rs786205112(-;-)

Make rs786205112(-;G)

Reference

GRCh38.p2 38.2/146

Chromosome

17

Position

15239509

Gene

PMP22

is a	snp
is	mentioned by
dbSNP	rs786205112
dbSNP (classic)	rs786205112
ClinGen	rs786205112
ebi	rs786205112
HLI	rs786205112
Exac	rs786205112
Gnomad	rs786205112
Varsome	rs786205112
LitVar	rs786205112
Map	rs786205112
PheGenI	rs786205112
Biobank	rs786205112
1000 genomes	rs786205112
hgdp	rs786205112
ensembl	rs786205112
geneview	rs786205112
scholar	rs786205112
google	rs786205112
pharmgkb	rs786205112
gwascentral	rs786205112
openSNP	rs786205112
23andMe	rs786205112
SNPshot	rs786205112
SNPdbe	rs786205112
MSV3d	rs786205112
GWAS Ctlg	rs786205112

Max Magnitude

0

ClinVar
Risk	rs786205112(-;-)
Alt	rs786205112(-;-)
Reference	Rs786205112(G;G)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease
Variation	info
Gene	PMP22
CLNDBN	Charcot-Marie-Tooth disease, type IA
Reversed	1
HGVS	NC_000017.10:g.15142826delC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023074.4,