rs132630280

Orientation

plus

Stabilized

plus

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

Make rs132630280(C;T)

Make rs132630280(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

103787811

Gene

PLP1

is a	snp
is	mentioned by
dbSNP	rs132630280
dbSNP (classic)	rs132630280
ClinGen	rs132630280
ebi	rs132630280
HLI	rs132630280
Exac	rs132630280
Gnomad	rs132630280
Varsome	rs132630280
LitVar	rs132630280
Map	rs132630280
PheGenI	rs132630280
Biobank	rs132630280
1000 genomes	rs132630280
hgdp	rs132630280
ensembl	rs132630280
geneview	rs132630280
scholar	rs132630280
google	rs132630280
pharmgkb	rs132630280
gwascentral	rs132630280
openSNP	rs132630280
23andMe	rs132630280
SNPshot	rs132630280
SNPdbe	rs132630280
MSV3d	rs132630280
GWAS Ctlg	rs132630280

Max Magnitude

0

OMIM	300401
Desc
Variant	0004
Related	also

ClinVar
Risk	rs132630280(G;G) rs132630280(T;T)
Alt	rs132630280(G;G) rs132630280(T;T)
Reference	Rs132630280(C;C)
Significance	Pathogenic
Disease	Pelizaeus-Merzbacher disease
Variation	info
Gene	PLP1
CLNDBN	Pelizaeus-Merzbacher disease
Reversed	0
HGVS	NC_000023.10:g.103042740C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011825.5,