rs104894621

Orientation

minus

Stabilized

minus

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

Make rs104894621(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

15239575

Gene

PMP22

is a	snp
is	mentioned by
dbSNP	rs104894621
dbSNP (classic)	rs104894621
ClinGen	rs104894621
ebi	rs104894621
HLI	rs104894621
Exac	rs104894621
Gnomad	rs104894621
Varsome	rs104894621
LitVar	rs104894621
Map	rs104894621
PheGenI	rs104894621
Biobank	rs104894621
1000 genomes	rs104894621
hgdp	rs104894621
ensembl	rs104894621
geneview	rs104894621
scholar	rs104894621
google	rs104894621
pharmgkb	rs104894621
gwascentral	rs104894621
openSNP	rs104894621
23andMe	rs104894621
SNPshot	rs104894621
SNPdbe	rs104894621
MSV3d	rs104894621
GWAS Ctlg	rs104894621

Max Magnitude

6.1

OMIM	601097
Desc
Variant	0007
Related	also

ClinVar
Risk	rs104894621(T;T)
Alt	rs104894621(T;T)
Reference	Rs104894621(C;C)
Significance	Pathogenic
Disease	Dejerine-Sottas syndrome Dejerine-Sottas disease Charcot-Marie-Tooth disease not provided
Variation	info
Gene	PMP22
CLNDBN	Dejerine-Sottas syndrome, autosomal dominant Dejerine-Sottas disease Charcot-Marie-Tooth disease, type I not provided
Reversed	1
HGVS	NC_000017.10:g.15142892G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008948.5, RCV000178073.1, RCV000456500.1, RCV000489163.1,