rs104894619

Orientation

minus

Stabilized

minus

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

Make rs104894619(C;T)

Make rs104894619(T;T)

Reference

GRCh38 38.1/142

Chromosome

17

Position

15231047

Gene

PMP22

is a	snp
is	mentioned by
dbSNP	rs104894619
dbSNP (classic)	rs104894619
ClinGen	rs104894619
ebi	rs104894619
HLI	rs104894619
Exac	rs104894619
Gnomad	rs104894619
Varsome	rs104894619
LitVar	rs104894619
Map	rs104894619
PheGenI	rs104894619
Biobank	rs104894619
1000 genomes	rs104894619
hgdp	rs104894619
ensembl	rs104894619
geneview	rs104894619
scholar	rs104894619
google	rs104894619
pharmgkb	rs104894619
gwascentral	rs104894619
openSNP	rs104894619
23andMe	rs104894619
SNPshot	rs104894619
SNPdbe	rs104894619
MSV3d	rs104894619
GWAS Ctlg	rs104894619

GMAF

0.002296

Max Magnitude

0

OMIM	601097
Desc
Variant	0005
Related	also

ClinVar
Risk	rs104894619(T;T)
Alt	rs104894619(T;T)
Reference	Rs104894619(C;C)
Significance	Other
Disease	Charcot-Marie-Tooth disease Hereditary liability to pressure palsies Charcot-Marie-Tooth disease not specified Charcot-Marie-Tooth disease not provided Charcot-Marie-Tooth
Variation	info
Gene	PMP22
CLNDBN	Charcot-Marie-Tooth disease, type 1a, autosomal recessive Hereditary liability to pressure palsies Charcot-Marie-Tooth disease, type IA not specified Charcot-Marie-Tooth disease, type I not provided Charcot-Marie-Tooth, Type 1
Reversed	1
HGVS	NC_000017.10:g.15134364G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008945.3, RCV000008946.5, RCV000032119.1, RCV000194789.3, RCV000197572.3, RCV000224441.1, RCV000324252.1,