rs132630278

Orientation

plus

Stabilized

plus

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

Make rs132630278(C;T)

Make rs132630278(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

103788460

Gene

PLP1

is a	snp
is	mentioned by
dbSNP	rs132630278
dbSNP (classic)	rs132630278
ClinGen	rs132630278
ebi	rs132630278
HLI	rs132630278
Exac	rs132630278
Gnomad	rs132630278
Varsome	rs132630278
LitVar	rs132630278
Map	rs132630278
PheGenI	rs132630278
Biobank	rs132630278
1000 genomes	rs132630278
hgdp	rs132630278
ensembl	rs132630278
geneview	rs132630278
scholar	rs132630278
google	rs132630278
pharmgkb	rs132630278
gwascentral	rs132630278
openSNP	rs132630278
23andMe	rs132630278
SNPshot	rs132630278
SNPdbe	rs132630278
MSV3d	rs132630278
GWAS Ctlg	rs132630278

Max Magnitude

0

OMIM	300401
Desc
Variant	0001
Related	also

ClinVar
Risk	rs132630278(T;T)
Alt	rs132630278(T;T)
Reference	Rs132630278(C;C)
Significance	Pathogenic
Disease	Pelizaeus-Merzbacher disease not provided
Variation	info
Gene	PLP1
CLNDBN	Pelizaeus-Merzbacher disease not provided
Reversed	0
HGVS	NC_000023.10:g.103043389C>T
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011822.5, RCV000079100.4,