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rs1057519543

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519543(G;T)
Make rs1057519543(T;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position154030913
GeneMECP2
is asnp
is mentioned by
dbSNPrs1057519543
dbSNP (old)rs1057519543
ClinGenrs1057519543
ebirs1057519543
HLIrs1057519543
Exacrs1057519543
Gnomadrs1057519543
Varsomers1057519543
LitVarrs1057519543
Maprs1057519543
PheGenIrs1057519543
Biobankrs1057519543
1000 genomesrs1057519543
hgdprs1057519543
ensemblrs1057519543
gopubmedrs1057519543
geneviewrs1057519543
scholarrs1057519543
googlers1057519543
pharmgkbrs1057519543
gwascentralrs1057519543
openSNPrs1057519543
23andMers1057519543
23andMe allrs1057519543
SNPshotrs1057519543
SNPdbers1057519543
MSV3drs1057519543
GWAS Ctlgrs1057519543
Max Magnitude0
ClinVar
Risk rs1057519543(T;T)
Alt rs1057519543(T;T)
Reference Rs1057519543(G;G)
Significance Probable-Pathogenic
Disease Focal epilepsy
Variation info
Gene MECP2
CLNDBN Focal epilepsy
Reversed 1
HGVS NC_000023.10:g.153296364C>A
CLNSRC
CLNACC RCV000416950.1,