rs104894624

Orientation

minus

Stabilized

minus

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

Make rs104894624(G;T)

Make rs104894624(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

15230952

Gene

PMP22

is a	snp
is	mentioned by
dbSNP	rs104894624
dbSNP (classic)	rs104894624
ClinGen	rs104894624
ebi	rs104894624
HLI	rs104894624
Exac	rs104894624
Gnomad	rs104894624
Varsome	rs104894624
LitVar	rs104894624
Map	rs104894624
PheGenI	rs104894624
Biobank	rs104894624
1000 genomes	rs104894624
hgdp	rs104894624
ensembl	rs104894624
geneview	rs104894624
scholar	rs104894624
google	rs104894624
pharmgkb	rs104894624
gwascentral	rs104894624
openSNP	rs104894624
23andMe	rs104894624
SNPshot	rs104894624
SNPdbe	rs104894624
MSV3d	rs104894624
GWAS Ctlg	rs104894624

Max Magnitude

0

OMIM	601097
Desc
Variant	0013
Related	also

ClinVar
Risk	rs104894624(C;C) rs104894624(T;T)
Alt	rs104894624(C;C) rs104894624(T;T)
Reference	Rs104894624(G;G)
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.15134269C>A; NC_000017.10:g.15134269C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008954.5, RCV000435815.1,