Rs104894809

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Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894809(A;A)
Make rs104894809(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position48792371
GeneGATA1
is asnp
is mentioned by
dbSNPrs104894809
PheGenIrs104894809
nextbiors104894809
hapmaprs104894809
1000 genomesrs104894809
hgdprs104894809
ensemblrs104894809
gopubmedrs104894809
geneviewrs104894809
scholarrs104894809
googlers104894809
pharmgkbrs104894809
gwascentralrs104894809
openSNPrs104894809
23andMers104894809
23andMe allrs104894809
SNP Nexus

SNPshotrs104894809
SNPdbers104894809
MSV3drs104894809
Max Magnitude0
OMIM305371
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104894809(A;A)
Alt rs104894809(A;A)
Reference rs104894809(G;G)
Significance Pathogenic
Disease Thrombocytopenia
Variation info
Gene GATA1
CLNDBN Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis
Reversed 0
HGVS NC_000023.10:g.48650778G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011173.4,