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rs137852312

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GG;GG) 0 common in clinvar
Make rs137852312(GG;TC)
Make rs137852312(TC;TC)
ReferenceGRCh38 38.1/141
ChromosomeX
Position48792346
GeneGATA1
is asnp
is mentioned by
dbSNPrs137852312
ebirs137852312
HLIrs137852312
Exacrs137852312
Varsomers137852312
Maprs137852312
PheGenIrs137852312
hapmaprs137852312
1000 genomesrs137852312
hgdprs137852312
ensemblrs137852312
gopubmedrs137852312
geneviewrs137852312
scholarrs137852312
googlers137852312
pharmgkbrs137852312
gwascentralrs137852312
openSNPrs137852312
23andMers137852312
23andMe allrs137852312
SNP Nexus

SNPshotrs137852312
SNPdbers137852312
MSV3drs137852312
GWAS Ctlgrs137852312
Max Magnitude0
OMIM305371
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137852312(TC;TC)
Alt rs137852312(TC;TC)
Reference rs137852312(GG;GG)
Significance Pathogenic
Disease Thrombocytopenia GATA-1-related thrombocytopenia with dyserythropoiesis
Variation info
Gene GATA1
CLNDBN Thrombocytopenia, X-linked, without dyserythropoietic anemia GATA-1-related thrombocytopenia with dyserythropoiesis
Reversed 0
HGVS NC_000023.10:g.48650753_48650754delGGinsTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000011170.2, RCV000144256.2,