rs132630290

Orientation

plus

Stabilized

plus

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

Make rs132630290(A;A)

Make rs132630290(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

103776998

Gene

PLP1

is a	snp
is	mentioned by
dbSNP	rs132630290
dbSNP (classic)	rs132630290
ClinGen	rs132630290
ebi	rs132630290
HLI	rs132630290
Exac	rs132630290
Gnomad	rs132630290
Varsome	rs132630290
LitVar	rs132630290
Map	rs132630290
PheGenI	rs132630290
Biobank	rs132630290
1000 genomes	rs132630290
hgdp	rs132630290
ensembl	rs132630290
geneview	rs132630290
scholar	rs132630290
google	rs132630290
pharmgkb	rs132630290
gwascentral	rs132630290
openSNP	rs132630290
23andMe	rs132630290
SNPshot	rs132630290
SNPdbe	rs132630290
MSV3d	rs132630290
GWAS Ctlg	rs132630290

Max Magnitude

0

OMIM	300401
Desc
Variant	0015
Related	also

ClinVar
Risk	rs132630290(A;A)
Alt	rs132630290(A;A)
Reference	Rs132630290(G;G)
Significance	Pathogenic
Disease	Pelizaeus-Merzbacher disease
Variation	info
Gene	PLP1
CLNDBN	Pelizaeus-Merzbacher disease, mild
Reversed	0
HGVS	NC_000023.10:g.103031926G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011836.2,