rs104894617

Orientation

minus

Stabilized

minus

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

Make rs104894617(C;C)

Reference

GRCh38 38.1/141

Chromosome

17

Position

15260681

Gene

PMP22

is a	snp
is	mentioned by
dbSNP	rs104894617
dbSNP (classic)	rs104894617
ClinGen	rs104894617
ebi	rs104894617
HLI	rs104894617
Exac	rs104894617
Gnomad	rs104894617
Varsome	rs104894617
LitVar	rs104894617
Map	rs104894617
PheGenI	rs104894617
Biobank	rs104894617
1000 genomes	rs104894617
hgdp	rs104894617
ensembl	rs104894617
geneview	rs104894617
scholar	rs104894617
google	rs104894617
pharmgkb	rs104894617
gwascentral	rs104894617
openSNP	rs104894617
23andMe	rs104894617
SNPshot	rs104894617
SNPdbe	rs104894617
MSV3d	rs104894617
GWAS Ctlg	rs104894617

Max Magnitude

6.1

OMIM	601097
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104894617(C;C)
Alt	rs104894617(C;C)
Reference	Rs104894617(T;T)
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.15163998A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008940.3,