rs132630284

Orientation

plus

Stabilized

plus

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

Make rs132630284(C;C)

Make rs132630284(C;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

103787951

Gene

PLP1

is a	snp
is	mentioned by
dbSNP	rs132630284
dbSNP (classic)	rs132630284
ClinGen	rs132630284
ebi	rs132630284
HLI	rs132630284
Exac	rs132630284
Gnomad	rs132630284
Varsome	rs132630284
LitVar	rs132630284
Map	rs132630284
PheGenI	rs132630284
Biobank	rs132630284
1000 genomes	rs132630284
hgdp	rs132630284
ensembl	rs132630284
geneview	rs132630284
scholar	rs132630284
google	rs132630284
pharmgkb	rs132630284
gwascentral	rs132630284
openSNP	rs132630284
23andMe	rs132630284
SNPshot	rs132630284
SNPdbe	rs132630284
MSV3d	rs132630284
GWAS Ctlg	rs132630284

Max Magnitude

0

OMIM	300401
Desc
Variant	0009
Related	also

ClinVar
Risk	rs132630284(A;A) rs132630284(C;C)
Alt	rs132630284(A;A) rs132630284(C;C)
Reference	Rs132630284(G;G)
Significance	Pathogenic
Disease	not provided Pelizaeus-Merzbacher disease
Variation	info
Gene	PLP1
CLNDBN	not provided Pelizaeus-Merzbacher disease
Reversed	0
HGVS	NC_000023.10:g.103042880G>A; NC_000023.10:g.103042880G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000255035.1, RCV000011830.5,