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rs62643614

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs62643614(-;-)
Make rs62643614(-;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18619933
GeneCDKL5
is asnp
is mentioned by
dbSNPrs62643614
ebirs62643614
HLIrs62643614
Exacrs62643614
Varsomers62643614
Maprs62643614
PheGenIrs62643614
hapmaprs62643614
1000 genomesrs62643614
hgdprs62643614
ensemblrs62643614
gopubmedrs62643614
geneviewrs62643614
scholarrs62643614
googlers62643614
pharmgkbrs62643614
gwascentralrs62643614
openSNPrs62643614
23andMers62643614
23andMe allrs62643614
SNP Nexus

SNPshotrs62643614
SNPdbers62643614
MSV3drs62643614
GWAS Ctlgrs62643614
Max Magnitude0
ClinVar
Risk rs62643614(;)
Alt rs62643614(;)
Reference rs62643614(G;G)
Significance Pathogenic
Disease Atypical Rett syndrome
Variation info
Gene CDKL5
CLNDBN Atypical Rett syndrome
Reversed 0
HGVS NC_000023.10:g.18638053delG
CLNSRC RettBASE (CDKL5)
CLNACC RCV000133348.2,