rs104894623

Orientation

minus

Stabilized

minus

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

Make rs104894623(C;C)

Make rs104894623(C;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

15239591

Gene

PMP22

is a	snp
is	mentioned by
dbSNP	rs104894623
dbSNP (classic)	rs104894623
ClinGen	rs104894623
ebi	rs104894623
HLI	rs104894623
Exac	rs104894623
Gnomad	rs104894623
Varsome	rs104894623
LitVar	rs104894623
Map	rs104894623
PheGenI	rs104894623
Biobank	rs104894623
1000 genomes	rs104894623
hgdp	rs104894623
ensembl	rs104894623
geneview	rs104894623
scholar	rs104894623
google	rs104894623
pharmgkb	rs104894623
gwascentral	rs104894623
openSNP	rs104894623
23andMe	rs104894623
SNPshot	rs104894623
SNPdbe	rs104894623
MSV3d	rs104894623
GWAS Ctlg	rs104894623

Max Magnitude

0

OMIM	601097
Desc
Variant	0010
Related	also

OMIM	601097
Desc
Variant	0017
Related	also

ClinVar
Risk	rs104894623(A;A) rs104894623(C;C)
Alt	rs104894623(A;A) rs104894623(C;C)
Reference	Rs104894623(G;G)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease and deafness Hereditary liability to pressure palsies
Variation	info
Gene	PMP22
CLNDBN	Charcot-Marie-Tooth disease and deafness Hereditary liability to pressure palsies
Reversed	1
HGVS	NC_000017.10:g.15142908C>G; NC_000017.10:g.15142908C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008951.3, RCV000008956.6,