rs121913589

Orientation

minus

Stabilized

minus

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

Make rs121913589(C;C)

Reference

GRCh38 38.1/141

Chromosome

1

Position

161306863

Gene

MPZ

is a	snp
is	mentioned by
dbSNP	rs121913589
dbSNP (classic)	rs121913589
ClinGen	rs121913589
ebi	rs121913589
HLI	rs121913589
Exac	rs121913589
Gnomad	rs121913589
Varsome	rs121913589
LitVar	rs121913589
Map	rs121913589
PheGenI	rs121913589
Biobank	rs121913589
1000 genomes	rs121913589
hgdp	rs121913589
ensembl	rs121913589
geneview	rs121913589
scholar	rs121913589
google	rs121913589
pharmgkb	rs121913589
gwascentral	rs121913589
openSNP	rs121913589
23andMe	rs121913589
SNPshot	rs121913589
SNPdbe	rs121913589
MSV3d	rs121913589
GWAS Ctlg	rs121913589

Merged from

Rs121913591

Max Magnitude

6.1

OMIM	159440
Desc
Variant	0009
Related	also

ClinVar
Risk	rs121913589(A;A) rs121913589(C;C)
Alt	rs121913589(A;A) rs121913589(C;C)
Reference	Rs121913589(G;G)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease not provided Decreased nerve conduction velocity Distal lower limb amyotrophy Distal muscle weakness Pes cavus Sensory neuropathy
Variation	info
Gene	MPZ
CLNDBN	Charcot-Marie-Tooth disease, demyelinating, type 1b Charcot-Marie-Tooth disease, type I not provided Decreased nerve conduction velocity Distal lower limb amyotrophy Distal muscle weakness Pes cavus Sensory neuropathy
Reversed	1
HGVS	NC_000001.10:g.161276653C>G; NC_000001.10:g.161276653C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015237.27, RCV000015239.23, RCV000196172.1, RCV000376287.1, RCV000415463.1,