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rs61752060

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs61752060(A;G)
Make rs61752060(G;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position18647251
GeneCDKL5, RS1
is asnp
is mentioned by
dbSNPrs61752060
dbSNP (classic)rs61752060
ClinGenrs61752060
ebirs61752060
HLIrs61752060
Exacrs61752060
Gnomadrs61752060
Varsomers61752060
LitVarrs61752060
Maprs61752060
PheGenIrs61752060
Biobankrs61752060
1000 genomesrs61752060
hgdprs61752060
ensemblrs61752060
geneviewrs61752060
scholarrs61752060
googlers61752060
pharmgkbrs61752060
gwascentralrs61752060
openSNPrs61752060
23andMers61752060
SNPshotrs61752060
SNPdbers61752060
MSV3drs61752060
GWAS Ctlgrs61752060
Max Magnitude0
ClinVar
Risk rs61752060(G;G)
Alt rs61752060(G;G)
Reference Rs61752060(A;A)
Significance Probable-Pathogenic
Disease not provided Juvenile retinoschisis
Variation info
Gene CDKL5 RS1
CLNDBN not provided Juvenile retinoschisis
Reversed 1
HGVS NC_000023.10:g.18665371T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000085259.1, RCV000410595.1,