rs104894620

Orientation

minus

Stabilized

minus

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

Make rs104894620(A;A)

Make rs104894620(A;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

15239584

Gene

PMP22

is a	snp
is	mentioned by
dbSNP	rs104894620
dbSNP (classic)	rs104894620
ClinGen	rs104894620
ebi	rs104894620
HLI	rs104894620
Exac	rs104894620
Gnomad	rs104894620
Varsome	rs104894620
LitVar	rs104894620
Map	rs104894620
PheGenI	rs104894620
Biobank	rs104894620
1000 genomes	rs104894620
hgdp	rs104894620
ensembl	rs104894620
geneview	rs104894620
scholar	rs104894620
google	rs104894620
pharmgkb	rs104894620
gwascentral	rs104894620
openSNP	rs104894620
23andMe	rs104894620
SNPshot	rs104894620
SNPdbe	rs104894620
MSV3d	rs104894620
GWAS Ctlg	rs104894620

Max Magnitude

0

OMIM	601097
Desc
Variant	0006
Related	also

ClinVar
Risk	rs104894620(A;A) rs104894620(C;C)
Alt	rs104894620(A;A) rs104894620(C;C)
Reference	Rs104894620(T;T)
Significance	Pathogenic
Disease	Dejerine-Sottas syndrome not provided
Variation	info
Gene	PMP22
CLNDBN	Dejerine-Sottas syndrome, autosomal dominant not provided
Reversed	1
HGVS	NC_000017.10:g.15142901A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008947.4, RCV000494533.1,