rs132630293

Orientation

plus

Stabilized

plus

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

Make rs132630293(C;T)

Make rs132630293(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

103789361

Gene

PLP1

is a	snp
is	mentioned by
dbSNP	rs132630293
dbSNP (classic)	rs132630293
ClinGen	rs132630293
ebi	rs132630293
HLI	rs132630293
Exac	rs132630293
Gnomad	rs132630293
Varsome	rs132630293
LitVar	rs132630293
Map	rs132630293
PheGenI	rs132630293
Biobank	rs132630293
1000 genomes	rs132630293
hgdp	rs132630293
ensembl	rs132630293
geneview	rs132630293
scholar	rs132630293
google	rs132630293
pharmgkb	rs132630293
gwascentral	rs132630293
openSNP	rs132630293
23andMe	rs132630293
SNPshot	rs132630293
SNPdbe	rs132630293
MSV3d	rs132630293
GWAS Ctlg	rs132630293

Merged from

Rs28936080

Max Magnitude

0

OMIM	300401
Desc
Variant	0019
Related	also

ClinVar
Risk	rs132630293(T;T)
Alt	rs132630293(T;T)
Reference	Rs132630293(C;C)
Significance	Pathogenic
Disease	Pelizaeus-Merzbacher disease
Variation	info
Gene	PLP1
CLNDBN	Pelizaeus-Merzbacher disease, connatal
Reversed	0
HGVS	NC_000023.10:g.103044290C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011840.10,