Rs104894816

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Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894816(A;G)
Make rs104894816(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position48792377
GeneGATA1
is asnp
is mentioned by
dbSNPrs104894816
Exacrs104894816
PheGenIrs104894816
nextbiors104894816
hapmaprs104894816
1000 genomesrs104894816
hgdprs104894816
ensemblrs104894816
gopubmedrs104894816
geneviewrs104894816
scholarrs104894816
googlers104894816
pharmgkbrs104894816
gwascentralrs104894816
openSNPrs104894816
23andMers104894816
23andMe allrs104894816
SNP Nexus

SNPshotrs104894816
SNPdbers104894816
MSV3drs104894816
OMIM305371
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894816(G;G)
Alt rs104894816(G;G)
Reference rs104894816(A;A)
Significance Pathogenic
Disease THROMBOCYTOPENIA
Variation info
Gene GATA1
CLNDBN THROMBOCYTOPENIA, X-LINKED, WITHOUT DYSERYTHROPOIETIC ANEMIA
Reversed 0
HGVS NC_000023.10:g.48650784A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000011169.1,