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rs61750250

From SNPedia

Orientationplus
Geno Mag Summary
(AGTTGGACCC;AGTTGGACCC) 0 common in clinvar
Make rs61750250(-;-)
Make rs61750250(-;TTGGACCCAG)
Make rs61750250(TTGGACCCAG;TTGGACCCAG)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18598474
GeneCDKL5
is asnp
is mentioned by
dbSNPrs61750250
ebirs61750250
HLIrs61750250
Exacrs61750250
Varsomers61750250
Maprs61750250
PheGenIrs61750250
hapmaprs61750250
1000 genomesrs61750250
hgdprs61750250
ensemblrs61750250
gopubmedrs61750250
geneviewrs61750250
scholarrs61750250
googlers61750250
pharmgkbrs61750250
gwascentralrs61750250
openSNPrs61750250
23andMers61750250
23andMe allrs61750250
SNP Nexus

SNPshotrs61750250
SNPdbers61750250
MSV3drs61750250
GWAS Ctlgrs61750250
Max Magnitude0
ClinVar
Risk rs61750250(;)
Alt rs61750250(;)
Reference rs61750250(AGTTGGACCC;AGTTGGACCC)
Significance Pathogenic
Disease Atypical Rett syndrome
Variation info
Gene CDKL5
CLNDBN Atypical Rett syndrome
Reversed 0
HGVS NC_000023.10:g.18616594_18616603delTTGGACCCAG
CLNSRC RettBASE (CDKL5)
CLNACC RCV000133385.2,