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rs104894189

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894189(C;T)
Make rs104894189(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position78035394
GeneRPS24
is asnp
is mentioned by
dbSNPrs104894189
dbSNP (classic)rs104894189
ClinGenrs104894189
ebirs104894189
HLIrs104894189
Exacrs104894189
Gnomadrs104894189
Varsomers104894189
LitVarrs104894189
Maprs104894189
PheGenIrs104894189
Biobankrs104894189
1000 genomesrs104894189
hgdprs104894189
ensemblrs104894189
geneviewrs104894189
scholarrs104894189
googlers104894189
pharmgkbrs104894189
gwascentralrs104894189
openSNPrs104894189
23andMers104894189
SNPshotrs104894189
SNPdbers104894189
MSV3drs104894189
GWAS Ctlgrs104894189
Max Magnitude0
OMIM602412
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894189(T;T)
Alt rs104894189(T;T)
Reference Rs104894189(C;C)
Significance Pathogenic
Disease Diamond-Blackfan anemia 3
Variation info
Gene RPS24
CLNDBN Diamond-Blackfan anemia 3
Reversed 0
HGVS NC_000010.10:g.79795152C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007668.3,