Rs104894929

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Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894929(A;G)
Make rs104894929(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position18642012
GeneCDKL5, RS1
is asnp
is mentioned by
dbSNPrs104894929
Exacrs104894929
PheGenIrs104894929
nextbiors104894929
hapmaprs104894929
1000 genomesrs104894929
hgdprs104894929
ensemblrs104894929
gopubmedrs104894929
geneviewrs104894929
scholarrs104894929
googlers104894929
pharmgkbrs104894929
gwascentralrs104894929
openSNPrs104894929
23andMers104894929
23andMe allrs104894929
SNP Nexus

SNPshotrs104894929
SNPdbers104894929
MSV3drs104894929
OMIM312700
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104894929(G;G)
Alt rs104894929(G;G)
Reference rs104894929(A;A)
Significance Pathogenic
Disease Juvenile retinoschisis
Variation info
Gene CDKL5 RS1
CLNDBN Juvenile retinoschisis
Reversed 0
HGVS NC_000023.10:g.18660132A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000010571.2,