rs267607245

Orientation

minus

Stabilized

minus

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

Make rs267607245(A;A)

Make rs267607245(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

161306882

Gene

MPZ

is a	snp
is	mentioned by
dbSNP	rs267607245
dbSNP (classic)	rs267607245
ClinGen	rs267607245
ebi	rs267607245
HLI	rs267607245
Exac	rs267607245
Gnomad	rs267607245
Varsome	rs267607245
LitVar	rs267607245
Map	rs267607245
PheGenI	rs267607245
Biobank	rs267607245
1000 genomes	rs267607245
hgdp	rs267607245
ensembl	rs267607245
geneview	rs267607245
scholar	rs267607245
google	rs267607245
pharmgkb	rs267607245
gwascentral	rs267607245
openSNP	rs267607245
23andMe	rs267607245
SNPshot	rs267607245
SNPdbe	rs267607245
MSV3d	rs267607245
GWAS Ctlg	rs267607245

Max Magnitude

0

ClinVar
Risk	rs267607245(A;A)
Alt	rs267607245(A;A)
Reference	Rs267607245(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.161276672C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015246.25,