rs132630292

Orientation

plus

Stabilized

plus

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

Make rs132630292(A;A)

Make rs132630292(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

103786707

Gene

PLP1

is a	snp
is	mentioned by
dbSNP	rs132630292
dbSNP (classic)	rs132630292
ClinGen	rs132630292
ebi	rs132630292
HLI	rs132630292
Exac	rs132630292
Gnomad	rs132630292
Varsome	rs132630292
LitVar	rs132630292
Map	rs132630292
PheGenI	rs132630292
Biobank	rs132630292
1000 genomes	rs132630292
hgdp	rs132630292
ensembl	rs132630292
geneview	rs132630292
scholar	rs132630292
google	rs132630292
pharmgkb	rs132630292
gwascentral	rs132630292
openSNP	rs132630292
23andMe	rs132630292
SNPshot	rs132630292
SNPdbe	rs132630292
MSV3d	rs132630292
GWAS Ctlg	rs132630292

Max Magnitude

0

OMIM	300401
Desc
Variant	0018
Related	also

ClinVar
Risk	rs132630292(A;A)
Alt	rs132630292(A;A)
Reference	Rs132630292(G;G)
Significance	Pathogenic
Disease	Pelizaeus-Merzbacher disease
Variation	info
Gene	PLP1
CLNDBN	Pelizaeus-Merzbacher disease, atypical
Reversed	0
HGVS	NC_000023.10:g.103041636G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011839.3,