rs132630282

Orientation

plus

Stabilized

plus

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

Make rs132630282(A;C)

Make rs132630282(C;C)

Reference

GRCh38 38.1/141

Chromosome

X

Position

103787888

Gene

PLP1

is a	snp
is	mentioned by
dbSNP	rs132630282
dbSNP (classic)	rs132630282
ClinGen	rs132630282
ebi	rs132630282
HLI	rs132630282
Exac	rs132630282
Gnomad	rs132630282
Varsome	rs132630282
LitVar	rs132630282
Map	rs132630282
PheGenI	rs132630282
Biobank	rs132630282
1000 genomes	rs132630282
hgdp	rs132630282
ensembl	rs132630282
geneview	rs132630282
scholar	rs132630282
google	rs132630282
pharmgkb	rs132630282
gwascentral	rs132630282
openSNP	rs132630282
23andMe	rs132630282
SNPshot	rs132630282
SNPdbe	rs132630282
MSV3d	rs132630282
GWAS Ctlg	rs132630282

Max Magnitude

0

OMIM	300401
Desc
Variant	0007
Related	also

ClinVar
Risk	rs132630282(C;C)
Alt	rs132630282(C;C)
Reference	Rs132630282(A;A)
Significance	Pathogenic
Disease	Pelizaeus-Merzbacher disease
Variation	info
Gene	PLP1
CLNDBN	Pelizaeus-Merzbacher disease
Reversed	0
HGVS	NC_000023.10:g.103042817A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011828.10,