rs104894625

Orientation

minus

Stabilized

minus

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

Make rs104894625(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

15260663

Gene

PMP22

is a	snp
is	mentioned by
dbSNP	rs104894625
dbSNP (classic)	rs104894625
ClinGen	rs104894625
ebi	rs104894625
HLI	rs104894625
Exac	rs104894625
Gnomad	rs104894625
Varsome	rs104894625
LitVar	rs104894625
Map	rs104894625
PheGenI	rs104894625
Biobank	rs104894625
1000 genomes	rs104894625
hgdp	rs104894625
ensembl	rs104894625
geneview	rs104894625
scholar	rs104894625
google	rs104894625
pharmgkb	rs104894625
gwascentral	rs104894625
openSNP	rs104894625
23andMe	rs104894625
SNPshot	rs104894625
SNPdbe	rs104894625
MSV3d	rs104894625
GWAS Ctlg	rs104894625

Max Magnitude

6.1

OMIM	601097
Desc
Variant	0019
Related	also

ClinVar
Risk	rs104894625(T;T)
Alt	rs104894625(T;T)
Reference	Rs104894625(C;C)
Significance	Pathogenic
Disease	Hereditary liability to pressure palsies Charcot-Marie-Tooth disease
Variation	info
Gene	PMP22
CLNDBN	Hereditary liability to pressure palsies Charcot-Marie-Tooth disease, type IA
Reversed	1
HGVS	NC_000017.10:g.15163980G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008958.3, RCV000008959.3,