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rs121918552

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918552(A;A)
Make rs121918552(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position25123996
GeneCYCS
is asnp
is mentioned by
dbSNPrs121918552
dbSNP (classic)rs121918552
ClinGenrs121918552
ebirs121918552
HLIrs121918552
Exacrs121918552
Gnomadrs121918552
Varsomers121918552
LitVarrs121918552
Maprs121918552
PheGenIrs121918552
Biobankrs121918552
1000 genomesrs121918552
hgdprs121918552
ensemblrs121918552
geneviewrs121918552
scholarrs121918552
googlers121918552
pharmgkbrs121918552
gwascentralrs121918552
openSNPrs121918552
23andMers121918552
SNPshotrs121918552
SNPdbers121918552
MSV3drs121918552
GWAS Ctlgrs121918552
Max Magnitude0
OMIM123970
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918552(A;A)
Alt rs121918552(A;A)
Reference Rs121918552(G;G)
Significance Pathogenic
Disease Thrombocytopenia 4
Variation info
Gene CYCS
CLNDBN Thrombocytopenia 4
Reversed 1
HGVS NC_000007.13:g.25163615C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000018419.30,