rs132630285

Orientation

plus

Stabilized

plus

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

Make rs132630285(A;A)

Make rs132630285(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

103786493

Gene

PLP1

is a	snp
is	mentioned by
dbSNP	rs132630285
dbSNP (classic)	rs132630285
ClinGen	rs132630285
ebi	rs132630285
HLI	rs132630285
Exac	rs132630285
Gnomad	rs132630285
Varsome	rs132630285
LitVar	rs132630285
Map	rs132630285
PheGenI	rs132630285
Biobank	rs132630285
1000 genomes	rs132630285
hgdp	rs132630285
ensembl	rs132630285
geneview	rs132630285
scholar	rs132630285
google	rs132630285
pharmgkb	rs132630285
gwascentral	rs132630285
openSNP	rs132630285
23andMe	rs132630285
SNPshot	rs132630285
SNPdbe	rs132630285
MSV3d	rs132630285
GWAS Ctlg	rs132630285

Max Magnitude

0

OMIM	300401
Desc
Variant	0010
Related	also

ClinVar
Risk	rs132630285(A;A)
Alt	rs132630285(A;A)
Reference	Rs132630285(G;G)
Significance	Pathogenic
Disease	Pelizaeus-Merzbacher disease
Variation	info
Gene	PLP1
CLNDBN	Pelizaeus-Merzbacher disease
Reversed	0
HGVS	NC_000023.10:g.103041422G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011831.5,