rs132630286

Orientation

plus

Stabilized

plus

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

Make rs132630286(G;T)

Make rs132630286(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

103788475

Gene

PLP1

is a	snp
is	mentioned by
dbSNP	rs132630286
dbSNP (classic)	rs132630286
ClinGen	rs132630286
ebi	rs132630286
HLI	rs132630286
Exac	rs132630286
Gnomad	rs132630286
Varsome	rs132630286
LitVar	rs132630286
Map	rs132630286
PheGenI	rs132630286
Biobank	rs132630286
1000 genomes	rs132630286
hgdp	rs132630286
ensembl	rs132630286
geneview	rs132630286
scholar	rs132630286
google	rs132630286
pharmgkb	rs132630286
gwascentral	rs132630286
openSNP	rs132630286
23andMe	rs132630286
SNPshot	rs132630286
SNPdbe	rs132630286
MSV3d	rs132630286
GWAS Ctlg	rs132630286

Max Magnitude

0

OMIM	300401
Desc
Variant	0011
Related	also

ClinVar
Risk	rs132630286(T;T)
Alt	rs132630286(T;T)
Reference	Rs132630286(G;G)
Significance	Pathogenic
Disease	Pelizaeus-Merzbacher disease
Variation	info
Gene	PLP1
CLNDBN	Pelizaeus-Merzbacher disease, connatal
Reversed	0
HGVS	NC_000023.10:g.103043404G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011832.10,