rs863225028

Orientation

minus

Stabilized

minus

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

Make rs863225028(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

17

Position

15231073

Gene

PMP22

is a	snp
is	mentioned by
dbSNP	rs863225028
dbSNP (classic)	rs863225028
ClinGen	rs863225028
ebi	rs863225028
HLI	rs863225028
Exac	rs863225028
Gnomad	rs863225028
Varsome	rs863225028
LitVar	rs863225028
Map	rs863225028
PheGenI	rs863225028
Biobank	rs863225028
1000 genomes	rs863225028
hgdp	rs863225028
ensembl	rs863225028
geneview	rs863225028
scholar	rs863225028
google	rs863225028
pharmgkb	rs863225028
gwascentral	rs863225028
openSNP	rs863225028
23andMe	rs863225028
SNPshot	rs863225028
SNPdbe	rs863225028
MSV3d	rs863225028
GWAS Ctlg	rs863225028

Max Magnitude

6.1

ClinVar
Risk	rs863225028(A;A) rs863225028(T;T)
Alt	rs863225028(A;A) rs863225028(T;T)
Reference	Rs863225028(C;C)
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.15134390G>T
CLNSRC	Quest Diagnostics
CLNACC	RCV000201146.1,