rs267607244

Orientation

minus

Stabilized

minus

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

Make rs267607244(A;A)

Make rs267607244(A;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

161306890

Gene

MPZ

is a	snp
is	mentioned by
dbSNP	rs267607244
dbSNP (classic)	rs267607244
ClinGen	rs267607244
ebi	rs267607244
HLI	rs267607244
Exac	rs267607244
Gnomad	rs267607244
Varsome	rs267607244
LitVar	rs267607244
Map	rs267607244
PheGenI	rs267607244
Biobank	rs267607244
1000 genomes	rs267607244
hgdp	rs267607244
ensembl	rs267607244
geneview	rs267607244
scholar	rs267607244
google	rs267607244
pharmgkb	rs267607244
gwascentral	rs267607244
openSNP	rs267607244
23andMe	rs267607244
SNPshot	rs267607244
SNPdbe	rs267607244
MSV3d	rs267607244
GWAS Ctlg	rs267607244

Max Magnitude

0

ClinVar
Risk	rs267607244(A;A) rs267607244(C;C)
Alt	rs267607244(A;A) rs267607244(C;C)
Reference	Rs267607244(T;T)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2I
Variation	info
Gene	MPZ
CLNDBN	Charcot-Marie-Tooth disease, demyelinating, type 1b Charcot-Marie-Tooth disease type 2I
Reversed	1
HGVS	NC_000001.10:g.161276680A>G; NC_000001.10:g.161276680A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000033915.2, RCV000015246.25,