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rs62641235

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs62641235(C;C)
Make rs62641235(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position18575423
GeneCDKL5
is asnp
is mentioned by
dbSNPrs62641235
ebirs62641235
HLIrs62641235
Exacrs62641235
Varsomers62641235
Maprs62641235
PheGenIrs62641235
hapmaprs62641235
1000 genomesrs62641235
hgdprs62641235
ensemblrs62641235
gopubmedrs62641235
geneviewrs62641235
scholarrs62641235
googlers62641235
pharmgkbrs62641235
gwascentralrs62641235
openSNPrs62641235
23andMers62641235
23andMe allrs62641235
SNP Nexus

SNPshotrs62641235
SNPdbers62641235
MSV3drs62641235
GWAS Ctlgrs62641235
Max Magnitude0
OMIM300203
Desc
Variant0010
Relatedalso


ClinVar
Risk rs62641235(A,C;A,C)
Alt rs62641235(A,C;A,C)
Reference rs62641235(T;T)
Significance Other
Disease Atypical Rett syndrome Early infantile epileptic encephalopathy 2 not provided
Variation info
Gene CDKL5
CLNDBN Atypical Rett syndrome Early infantile epileptic encephalopathy 2 not provided
Reversed 0
HGVS NC_000023.10:g.18593543T>A; NC_000023.10:g.18593543T>C
CLNSRC RettBASE (CDKL5) HGMD OMIM Allelic Variant
CLNACC RCV000133344.2, RCV000012258.11, RCV000080068.8, RCV000169913.1,