rs132630281

Orientation

plus

Stabilized

plus

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

Make rs132630281(G;T)

Make rs132630281(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

103788469

Gene

PLP1

is a	snp
is	mentioned by
dbSNP	rs132630281
dbSNP (classic)	rs132630281
ClinGen	rs132630281
ebi	rs132630281
HLI	rs132630281
Exac	rs132630281
Gnomad	rs132630281
Varsome	rs132630281
LitVar	rs132630281
Map	rs132630281
PheGenI	rs132630281
Biobank	rs132630281
1000 genomes	rs132630281
hgdp	rs132630281
ensembl	rs132630281
geneview	rs132630281
scholar	rs132630281
google	rs132630281
pharmgkb	rs132630281
gwascentral	rs132630281
openSNP	rs132630281
23andMe	rs132630281
SNPshot	rs132630281
SNPdbe	rs132630281
MSV3d	rs132630281
GWAS Ctlg	rs132630281

Max Magnitude

0

OMIM	300401
Desc
Variant	0005
Related	also

ClinVar
Risk	rs132630281(T;T)
Alt	rs132630281(T;T)
Reference	Rs132630281(G;G)
Significance	Pathogenic
Disease	Pelizaeus-Merzbacher disease
Variation	info
Gene	PLP1
CLNDBN	Pelizaeus-Merzbacher disease
Reversed	0
HGVS	NC_000023.10:g.103043398G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011826.5,