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rs1060499620

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1060499620(-;AG)
Make rs1060499620(AG;AG)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position154030803
GeneMECP2
is asnp
is mentioned by
dbSNPrs1060499620
dbSNP (classic)rs1060499620
ClinGenrs1060499620
ebirs1060499620
HLIrs1060499620
Exacrs1060499620
Gnomadrs1060499620
Varsomers1060499620
LitVarrs1060499620
Maprs1060499620
PheGenIrs1060499620
Biobankrs1060499620
1000 genomesrs1060499620
hgdprs1060499620
ensemblrs1060499620
geneviewrs1060499620
scholarrs1060499620
googlers1060499620
pharmgkbrs1060499620
gwascentralrs1060499620
openSNPrs1060499620
23andMers1060499620
SNPshotrs1060499620
SNPdbers1060499620
MSV3drs1060499620
GWAS Ctlgrs1060499620
Max Magnitude0
ClinVar
Risk rs1060499620(AG;AG)
Alt rs1060499620(AG;AG)
Reference Rs1060499620(-;-)
Significance Pathogenic
Disease Rett syndrome
Variation info
Gene MECP2
CLNDBN Rett syndrome
Reversed 1
HGVS NC_000023.10:g.153296254_153296255insCT
CLNSRC
CLNACC RCV000445567.1,