rs267607246

Orientation

minus

Stabilized

minus

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

Make rs267607246(C;G)

Make rs267607246(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

161306427

Gene

MPZ

is a	snp
is	mentioned by
dbSNP	rs267607246
dbSNP (classic)	rs267607246
ClinGen	rs267607246
ebi	rs267607246
HLI	rs267607246
Exac	rs267607246
Gnomad	rs267607246
Varsome	rs267607246
LitVar	rs267607246
Map	rs267607246
PheGenI	rs267607246
Biobank	rs267607246
1000 genomes	rs267607246
hgdp	rs267607246
ensembl	rs267607246
geneview	rs267607246
scholar	rs267607246
google	rs267607246
pharmgkb	rs267607246
gwascentral	rs267607246
openSNP	rs267607246
23andMe	rs267607246
SNPshot	rs267607246
SNPdbe	rs267607246
MSV3d	rs267607246
GWAS Ctlg	rs267607246

Max Magnitude

0

ClinVar
Risk	rs267607246(G;G)
Alt	rs267607246(G;G)
Reference	Rs267607246(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.161276217G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015246.25,