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rs11543022

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs11543022(C;T)
Make rs11543022(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position103785621
GeneLOC101928286, PLP1
is asnp
is mentioned by
dbSNPrs11543022
ebirs11543022
HLIrs11543022
Exacrs11543022
Varsomers11543022
Maprs11543022
PheGenIrs11543022
hapmaprs11543022
1000 genomesrs11543022
hgdprs11543022
ensemblrs11543022
gopubmedrs11543022
geneviewrs11543022
scholarrs11543022
googlers11543022
pharmgkbrs11543022
gwascentralrs11543022
openSNPrs11543022
23andMers11543022
23andMe allrs11543022
SNP Nexus

SNPshotrs11543022
SNPdbers11543022
MSV3drs11543022
GWAS Ctlgrs11543022
Max Magnitude0
OMIM300401
Desc
Variant0003
Relatedalso
? (C;C)
ClinVar
Risk rs11543022(G,T;G,T)
Alt rs11543022(G,T;G,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
CLNACC RCV000011824.12,