rs132630283

Orientation

plus

Stabilized

plus

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

Make rs132630283(C;C)

Make rs132630283(C;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

103788485

Gene

PLP1

is a	snp
is	mentioned by
dbSNP	rs132630283
dbSNP (classic)	rs132630283
ClinGen	rs132630283
ebi	rs132630283
HLI	rs132630283
Exac	rs132630283
Gnomad	rs132630283
Varsome	rs132630283
LitVar	rs132630283
Map	rs132630283
PheGenI	rs132630283
Biobank	rs132630283
1000 genomes	rs132630283
hgdp	rs132630283
ensembl	rs132630283
geneview	rs132630283
scholar	rs132630283
google	rs132630283
pharmgkb	rs132630283
gwascentral	rs132630283
openSNP	rs132630283
23andMe	rs132630283
SNPshot	rs132630283
SNPdbe	rs132630283
MSV3d	rs132630283
GWAS Ctlg	rs132630283

Max Magnitude

0

OMIM	300401
Desc
Variant	0008
Related	also

ClinVar
Risk	rs132630283(C;C)
Alt	rs132630283(C;C)
Reference	Rs132630283(T;T)
Significance	Pathogenic
Disease	Pelizaeus-Merzbacher disease
Variation	info
Gene	PLP1
CLNDBN	Pelizaeus-Merzbacher disease
Reversed	0
HGVS	NC_000023.10:g.103043414T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011829.5,