rs754068936

Orientation

plus

Stabilized

plus

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

Make rs754068936(G;T)

Make rs754068936(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

1

Position

161306462

Gene

MPZ

is a	snp
is	mentioned by
dbSNP	rs754068936
dbSNP (classic)	rs754068936
ClinGen	rs754068936
ebi	rs754068936
HLI	rs754068936
Exac	rs754068936
Gnomad	rs754068936
Varsome	rs754068936
LitVar	rs754068936
Map	rs754068936
PheGenI	rs754068936
Biobank	rs754068936
1000 genomes	rs754068936
hgdp	rs754068936
ensembl	rs754068936
geneview	rs754068936
scholar	rs754068936
google	rs754068936
pharmgkb	rs754068936
gwascentral	rs754068936
openSNP	rs754068936
23andMe	rs754068936
SNPshot	rs754068936
SNPdbe	rs754068936
MSV3d	rs754068936
GWAS Ctlg	rs754068936

Max Magnitude

0

ClinVar
Risk	rs754068936(T;T)
Alt	rs754068936(T;T)
Reference	Rs754068936(G;G)
Significance	Probable-Pathogenic
Disease	Charcot-Marie-Tooth disease dominant intermediate 3 Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth disease Congenital hypomyelinating neuropathy Dejerine-Sottas disease Roussy-Lévy syndrome
Variation	info
Gene	MPZ
CLNDBN	Charcot-Marie-Tooth disease dominant intermediate 3 Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth disease, demyelinating, type 1b Congenital hypomyelinating neuropathy Dejerine-Sottas disease Roussy-Lévy syndrome
Reversed	0
HGVS	NC_000001.10:g.161276252G>T
CLNSRC
CLNACC	RCV000195798.1,