rs121913604

Orientation

minus

Stabilized

minus

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

Make rs121913604(C;C)

Make rs121913604(C;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

161307314

Gene

MPZ

is a	snp
is	mentioned by
dbSNP	rs121913604
dbSNP (classic)	rs121913604
ClinGen	rs121913604
ebi	rs121913604
HLI	rs121913604
Exac	rs121913604
Gnomad	rs121913604
Varsome	rs121913604
LitVar	rs121913604
Map	rs121913604
PheGenI	rs121913604
Biobank	rs121913604
1000 genomes	rs121913604
hgdp	rs121913604
ensembl	rs121913604
geneview	rs121913604
scholar	rs121913604
google	rs121913604
pharmgkb	rs121913604
gwascentral	rs121913604
openSNP	rs121913604
23andMe	rs121913604
SNPshot	rs121913604
SNPdbe	rs121913604
MSV3d	rs121913604
GWAS Ctlg	rs121913604

Max Magnitude

0

OMIM	159440
Desc
Variant	0028
Related	also

ClinVar
Risk	rs121913604(C;C)
Alt	rs121913604(C;C)
Reference	Rs121913604(G;G)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease type 2I
Variation	info
Gene	MPZ
CLNDBN	Charcot-Marie-Tooth disease type 2I
Reversed	1
HGVS	NC_000001.10:g.161277104C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015257.26,