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rs61749751

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs61749751(-;-)
Make rs61749751(-;ACGCC)
Make rs61749751(ACGCC;ACGCC)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position154031076
GeneMECP2
is asnp
is mentioned by
dbSNPrs61749751
ebirs61749751
HLIrs61749751
Exacrs61749751
Varsomers61749751
Maprs61749751
PheGenIrs61749751
hapmaprs61749751
1000 genomesrs61749751
hgdprs61749751
ensemblrs61749751
gopubmedrs61749751
geneviewrs61749751
scholarrs61749751
googlers61749751
pharmgkbrs61749751
gwascentralrs61749751
openSNPrs61749751
23andMers61749751
23andMe allrs61749751
SNP Nexus

SNPshotrs61749751
SNPdbers61749751
MSV3drs61749751
GWAS Ctlgrs61749751
Max Magnitude0
ClinVar
Risk rs61749751(ACGCCC,CC;ACGCCC,CC)
Alt rs61749751(ACGCCC,CC;ACGCCC,CC)
Reference rs61749751(C;C)
Significance Pathogenic
Disease Rett syndrome not provided Severe neonatal-onset encephalopathy with microcephaly
Variation info
Gene MECP2
CLNDBN Rett syndrome not provided Severe neonatal-onset encephalopathy with microcephaly
Reversed 1
HGVS NC_000023.10:g.153296526dupG; NC_000023.10:g.153296528_153296532dupGGCGT
CLNSRC
CLNACC RCV000133229.2, RCV000144424.1, RCV000170112.1, RCV000133217.2,