rs28936682

Orientation

minus

Stabilized

minus

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

Make rs28936682(C;T)

Make rs28936682(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

15230931

Gene

PMP22

is a	snp
is	mentioned by
dbSNP	rs28936682
dbSNP (classic)	rs28936682
ClinGen	rs28936682
ebi	rs28936682
HLI	rs28936682
Exac	rs28936682
Gnomad	rs28936682
Varsome	rs28936682
LitVar	rs28936682
Map	rs28936682
PheGenI	rs28936682
Biobank	rs28936682
1000 genomes	rs28936682
hgdp	rs28936682
ensembl	rs28936682
geneview	rs28936682
scholar	rs28936682
google	rs28936682
pharmgkb	rs28936682
gwascentral	rs28936682
openSNP	rs28936682
23andMe	rs28936682
SNPshot	rs28936682
SNPdbe	rs28936682
MSV3d	rs28936682
GWAS Ctlg	rs28936682

Max Magnitude

0

OMIM	601097
Desc	DEJERINE-SOTTAS SYNDROME, AUTOSOMAL RECESSIVE
Variant	0018
Related	also

ClinVar
Risk	rs28936682(T;T)
Alt	rs28936682(T;T)
Reference	Rs28936682(C;C)
Significance	Pathogenic
Disease	Autosomal recessive Dejerine-Sottas syndrome Charcot-Marie-Tooth disease and deafness
Variation	info
Gene	PMP22
CLNDBN	Autosomal recessive Dejerine-Sottas syndrome Charcot-Marie-Tooth disease and deafness
Reversed	1
HGVS	NC_000017.10:g.15134248G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008957.4, RCV000193053.1,