rs132630289

Orientation

plus

Stabilized

plus

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

Make rs132630289(C;T)

Make rs132630289(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

103785705

Gene

PLP1

is a	snp
is	mentioned by
dbSNP	rs132630289
dbSNP (classic)	rs132630289
ClinGen	rs132630289
ebi	rs132630289
HLI	rs132630289
Exac	rs132630289
Gnomad	rs132630289
Varsome	rs132630289
LitVar	rs132630289
Map	rs132630289
PheGenI	rs132630289
Biobank	rs132630289
1000 genomes	rs132630289
hgdp	rs132630289
ensembl	rs132630289
geneview	rs132630289
scholar	rs132630289
google	rs132630289
pharmgkb	rs132630289
gwascentral	rs132630289
openSNP	rs132630289
23andMe	rs132630289
SNPshot	rs132630289
SNPdbe	rs132630289
MSV3d	rs132630289
GWAS Ctlg	rs132630289

Max Magnitude

0

OMIM	300401
Desc
Variant	0014
Related	also

ClinVar
Risk	rs132630289(T;T)
Alt	rs132630289(T;T)
Reference	Rs132630289(C;C)
Significance	Pathogenic
Disease	Pelizaeus-Merzbacher disease
Variation	info
Gene	PLP1
CLNDBN	Pelizaeus-Merzbacher disease
Reversed	0
HGVS	NC_000023.10:g.103040634C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011835.5,