rs104894627

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;T)	6.1	Charcot-Marie-Tooth Disease, type 1

Make rs104894627(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

15259162

Gene

PMP22

is a	snp
is	mentioned by
dbSNP	rs104894627
dbSNP (classic)	rs104894627
ClinGen	rs104894627
ebi	rs104894627
HLI	rs104894627
Exac	rs104894627
Gnomad	rs104894627
Varsome	rs104894627
LitVar	rs104894627
Map	rs104894627
PheGenI	rs104894627
Biobank	rs104894627
1000 genomes	rs104894627
hgdp	rs104894627
ensembl	rs104894627
geneview	rs104894627
scholar	rs104894627
google	rs104894627
pharmgkb	rs104894627
gwascentral	rs104894627
openSNP	rs104894627
23andMe	rs104894627
SNPshot	rs104894627
SNPdbe	rs104894627
MSV3d	rs104894627
GWAS Ctlg	rs104894627

Max Magnitude

6.1

OMIM	601097
Desc
Variant	0016
Related	also

ClinVar
Risk	rs104894627(T;T)
Alt	rs104894627(T;T)
Reference	Rs104894627(A;A)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease
Variation	info
Gene	PMP22
CLNDBN	Charcot-Marie-Tooth disease, type 1a, with focally folded myelin sheaths
Reversed	1
HGVS	NC_000017.10:g.15162479T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008955.5,