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rs786204975

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786204975(-;-)
Make rs786204975(-;C)
ReferenceGRCh38.p2 38.2/146
ChromosomeX
Position18604778
GeneCDKL5
is asnp
is mentioned by
dbSNPrs786204975
ebirs786204975
HLIrs786204975
Exacrs786204975
Varsomers786204975
Maprs786204975
PheGenIrs786204975
hapmaprs786204975
1000 genomesrs786204975
hgdprs786204975
ensemblrs786204975
gopubmedrs786204975
geneviewrs786204975
scholarrs786204975
googlers786204975
pharmgkbrs786204975
gwascentralrs786204975
openSNPrs786204975
23andMers786204975
23andMe allrs786204975
SNP Nexus

SNPshotrs786204975
SNPdbers786204975
MSV3drs786204975
GWAS Ctlgrs786204975
Max Magnitude0
ClinVar
Risk rs786204975(;)
Alt rs786204975(;)
Reference rs786204975(C;C)
Significance Pathogenic
Disease Atypical Rett syndrome
Variation info
Gene CDKL5
CLNDBN Atypical Rett syndrome
Reversed 0
HGVS NC_000023.10:g.18622898delC
CLNSRC RettBASE (CDKL5)
CLNACC RCV000170014.1,