rs104894626

Orientation

minus

Stabilized

minus

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

Make rs104894626(C;C)

Make rs104894626(C;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

15259190

Gene

PMP22

is a	snp
is	mentioned by
dbSNP	rs104894626
dbSNP (classic)	rs104894626
ClinGen	rs104894626
ebi	rs104894626
HLI	rs104894626
Exac	rs104894626
Gnomad	rs104894626
Varsome	rs104894626
LitVar	rs104894626
Map	rs104894626
PheGenI	rs104894626
Biobank	rs104894626
1000 genomes	rs104894626
hgdp	rs104894626
ensembl	rs104894626
geneview	rs104894626
scholar	rs104894626
google	rs104894626
pharmgkb	rs104894626
gwascentral	rs104894626
openSNP	rs104894626
23andMe	rs104894626
SNPshot	rs104894626
SNPdbe	rs104894626
MSV3d	rs104894626
GWAS Ctlg	rs104894626

Max Magnitude

0

OMIM	601097
Desc
Variant	0014
Related	also

ClinVar
Risk	rs104894626(C;C)
Alt	rs104894626(C;C)
Reference	Rs104894626(T;T)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease and deafness
Variation	info
Gene	PMP22
CLNDBN	Charcot-Marie-Tooth disease and deafness
Reversed	1
HGVS	NC_000017.10:g.15162507A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023072.3,