Rs104894930

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Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894930(A;A)
Make rs104894930(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position18642071
GeneCDKL5, RS1
is asnp
is mentioned by
dbSNPrs104894930
Exacrs104894930
PheGenIrs104894930
nextbiors104894930
hapmaprs104894930
1000 genomesrs104894930
hgdprs104894930
ensemblrs104894930
gopubmedrs104894930
geneviewrs104894930
scholarrs104894930
googlers104894930
pharmgkbrs104894930
gwascentralrs104894930
openSNPrs104894930
23andMers104894930
23andMe allrs104894930
SNP Nexus

SNPshotrs104894930
SNPdbers104894930
MSV3drs104894930
OMIM312700
Desc
Variant0010
Relatedalso
ClinVar
Risk rs104894930(A;A)
Alt rs104894930(A;A)
Reference rs104894930(G;G)
Significance Pathogenic
Disease Juvenile retinoschisis not provided
Variation info
Gene CDKL5 RS1
CLNDBN Juvenile retinoschisis not provided
Reversed 0
HGVS NC_000023.10:g.18660191G>A
CLNSRC OMIM Allelic Variant Retina International
CLNACC RCV000010573.5, RCV000085344.1,