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rs104894188

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894188(C;T)
Make rs104894188(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position78037230
GeneRPS24
is asnp
is mentioned by
dbSNPrs104894188
dbSNP (classic)rs104894188
ClinGenrs104894188
ebirs104894188
HLIrs104894188
Exacrs104894188
Gnomadrs104894188
Varsomers104894188
LitVarrs104894188
Maprs104894188
PheGenIrs104894188
Biobankrs104894188
1000 genomesrs104894188
hgdprs104894188
ensemblrs104894188
geneviewrs104894188
scholarrs104894188
googlers104894188
pharmgkbrs104894188
gwascentralrs104894188
openSNPrs104894188
23andMers104894188
SNPshotrs104894188
SNPdbers104894188
MSV3drs104894188
GWAS Ctlgrs104894188
Max Magnitude0
OMIM602412
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894188(T;T)
Alt rs104894188(T;T)
Reference Rs104894188(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.79796988C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007667.4,