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rs104894935

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894935(C;C)
Make rs104894935(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position18672031
GeneRS1
is asnp
is mentioned by
dbSNPrs104894935
dbSNP (classic)rs104894935
ClinGenrs104894935
ebirs104894935
HLIrs104894935
Exacrs104894935
Gnomadrs104894935
Varsomers104894935
LitVarrs104894935
Maprs104894935
PheGenIrs104894935
Biobankrs104894935
1000 genomesrs104894935
hgdprs104894935
ensemblrs104894935
geneviewrs104894935
scholarrs104894935
googlers104894935
pharmgkbrs104894935
gwascentralrs104894935
openSNPrs104894935
23andMers104894935
SNPshotrs104894935
SNPdbers104894935
MSV3drs104894935
GWAS Ctlgrs104894935
Max Magnitude0
OMIM312700
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104894935(C;C)
Alt rs104894935(C;C)
Reference Rs104894935(T;T)
Significance Pathogenic
Disease Juvenile retinoschisis not provided
Variation info
Gene RS1
CLNDBN Juvenile retinoschisis not provided
Reversed 1
HGVS NC_000023.10:g.18690151A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010570.3, RCV000085290.1,