rs132630279

Orientation

plus

Stabilized

plus

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

Make rs132630279(C;C)

Make rs132630279(C;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

103787831

Gene

PLP1

is a	snp
is	mentioned by
dbSNP	rs132630279
dbSNP (classic)	rs132630279
ClinGen	rs132630279
ebi	rs132630279
HLI	rs132630279
Exac	rs132630279
Gnomad	rs132630279
Varsome	rs132630279
LitVar	rs132630279
Map	rs132630279
PheGenI	rs132630279
Biobank	rs132630279
1000 genomes	rs132630279
hgdp	rs132630279
ensembl	rs132630279
geneview	rs132630279
scholar	rs132630279
google	rs132630279
pharmgkb	rs132630279
gwascentral	rs132630279
openSNP	rs132630279
23andMe	rs132630279
SNPshot	rs132630279
SNPdbe	rs132630279
MSV3d	rs132630279
GWAS Ctlg	rs132630279

Max Magnitude

0

OMIM	300401
Desc
Variant	0002
Related	also

ClinVar
Risk	rs132630279(C;C)
Alt	rs132630279(C;C)
Reference	Rs132630279(T;T)
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.103042760T>C
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011823.12, RCV000079097.4,