rs121913605

Orientation

minus

Stabilized

minus

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

Make rs121913605(C;G)

Make rs121913605(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

161307306

Gene

MPZ

is a	snp
is	mentioned by
dbSNP	rs121913605
dbSNP (classic)	rs121913605
ClinGen	rs121913605
ebi	rs121913605
HLI	rs121913605
Exac	rs121913605
Gnomad	rs121913605
Varsome	rs121913605
LitVar	rs121913605
Map	rs121913605
PheGenI	rs121913605
Biobank	rs121913605
1000 genomes	rs121913605
hgdp	rs121913605
ensembl	rs121913605
geneview	rs121913605
scholar	rs121913605
google	rs121913605
pharmgkb	rs121913605
gwascentral	rs121913605
openSNP	rs121913605
23andMe	rs121913605
SNPshot	rs121913605
SNPdbe	rs121913605
MSV3d	rs121913605
GWAS Ctlg	rs121913605

Max Magnitude

0

OMIM	159440
Desc
Variant	0029
Related	also

ClinVar
Risk	rs121913605(G;G)
Alt	rs121913605(G;G)
Reference	Rs121913605(C;C)
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.161277096G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015258.26,