rs104894622

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs104894622(A;A)

Make rs104894622(A;C)

Reference

GRCh38 38.1/141

Chromosome

17

Position

15260692

Gene

PMP22

is a	snp
is	mentioned by
dbSNP	rs104894622
dbSNP (classic)	rs104894622
ClinGen	rs104894622
ebi	rs104894622
HLI	rs104894622
Exac	rs104894622
Gnomad	rs104894622
Varsome	rs104894622
LitVar	rs104894622
Map	rs104894622
PheGenI	rs104894622
Biobank	rs104894622
1000 genomes	rs104894622
hgdp	rs104894622
ensembl	rs104894622
geneview	rs104894622
scholar	rs104894622
google	rs104894622
pharmgkb	rs104894622
gwascentral	rs104894622
openSNP	rs104894622
23andMe	rs104894622
SNPshot	rs104894622
SNPdbe	rs104894622
MSV3d	rs104894622
GWAS Ctlg	rs104894622

Max Magnitude

0

OMIM	601097
Desc
Variant	0008
Related	also

ClinVar
Risk	rs104894622(A;A)
Alt	rs104894622(A;A)
Reference	Rs104894622(C;C)
Significance	Pathogenic
Disease	Dejerine-Sottas syndrome Charcot-Marie-Tooth disease
Variation	info
Gene	PMP22
CLNDBN	Dejerine-Sottas syndrome, autosomal dominant Charcot-Marie-Tooth disease, type I
Reversed	1
HGVS	NC_000017.10:g.15164009G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008949.4, RCV000168060.1,