rs104894618

Orientation

minus

Stabilized

minus

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

Make rs104894618(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

15239554

Gene

PMP22

is a	snp
is	mentioned by
dbSNP	rs104894618
dbSNP (classic)	rs104894618
ClinGen	rs104894618
ebi	rs104894618
HLI	rs104894618
Exac	rs104894618
Gnomad	rs104894618
Varsome	rs104894618
LitVar	rs104894618
Map	rs104894618
PheGenI	rs104894618
Biobank	rs104894618
1000 genomes	rs104894618
hgdp	rs104894618
ensembl	rs104894618
geneview	rs104894618
scholar	rs104894618
google	rs104894618
pharmgkb	rs104894618
gwascentral	rs104894618
openSNP	rs104894618
23andMe	rs104894618
SNPshot	rs104894618
SNPdbe	rs104894618
MSV3d	rs104894618
GWAS Ctlg	rs104894618

Max Magnitude

6.1

OMIM	601097
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104894618(G;G)
Alt	rs104894618(G;G)
Reference	Rs104894618(C;C)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease
Variation	info
Gene	PMP22
CLNDBN	Charcot-Marie-Tooth disease, type IA
Reversed	1
HGVS	NC_000017.10:g.15142871G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008941.3,