rs863225027

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;T)	6.1	Charcot-Marie-Tooth Disease, type 1
(T;T)	0	common in clinvar

Make rs863225027(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

17

Position

15239555

Gene

PMP22

is a	snp
is	mentioned by
dbSNP	rs863225027
dbSNP (classic)	rs863225027
ClinGen	rs863225027
ebi	rs863225027
HLI	rs863225027
Exac	rs863225027
Gnomad	rs863225027
Varsome	rs863225027
LitVar	rs863225027
Map	rs863225027
PheGenI	rs863225027
Biobank	rs863225027
1000 genomes	rs863225027
hgdp	rs863225027
ensembl	rs863225027
geneview	rs863225027
scholar	rs863225027
google	rs863225027
pharmgkb	rs863225027
gwascentral	rs863225027
openSNP	rs863225027
23andMe	rs863225027
SNPshot	rs863225027
SNPdbe	rs863225027
MSV3d	rs863225027
GWAS Ctlg	rs863225027

Max Magnitude

6.1

ClinVar
Risk	rs863225027(A;A)
Alt	rs863225027(A;A)
Reference	Rs863225027(T;T)
Significance	Probable-Pathogenic
Disease	Charcot-Marie-Tooth disease
Variation	info
Gene	PMP22
CLNDBN	Charcot-Marie-Tooth disease, type IA
Reversed	1
HGVS	NC_000017.10:g.15142872A>T
CLNSRC	Quest Diagnostics
CLNACC	RCV000201185.1,