rs11543022

Orientation

plus

Stabilized

plus

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

Make rs11543022(C;T)

Make rs11543022(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

103785621

Gene

PLP1

is a	snp
is	mentioned by
dbSNP	rs11543022
dbSNP (classic)	rs11543022
ClinGen	rs11543022
ebi	rs11543022
HLI	rs11543022
Exac	rs11543022
Gnomad	rs11543022
Varsome	rs11543022
LitVar	rs11543022
Map	rs11543022
PheGenI	rs11543022
Biobank	rs11543022
1000 genomes	rs11543022
hgdp	rs11543022
ensembl	rs11543022
geneview	rs11543022
scholar	rs11543022
google	rs11543022
pharmgkb	rs11543022
gwascentral	rs11543022
openSNP	rs11543022
23andMe	rs11543022
SNPshot	rs11543022
SNPdbe	rs11543022
MSV3d	rs11543022
GWAS Ctlg	rs11543022

Max Magnitude

0

OMIM	300401
Desc
Variant	0003
Related	also

?	(C;C)

ClinVar
Risk	rs11543022(G;G) rs11543022(T;T)
Alt	rs11543022(G;G) rs11543022(T;T)
Reference	Rs11543022(C;C)
Significance	Pathogenic
Disease	Pelizaeus-Merzbacher disease
Variation	info
Gene	PLP1
CLNDBN	Pelizaeus-Merzbacher disease
Reversed	0
HGVS	NC_000023.10:g.103040550C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011824.12,