Have questions? Visit https://www.reddit.com/r/SNPedia

rs387907207

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907207(C;T)
Make rs387907207(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position48792370
GeneGATA1
is asnp
is mentioned by
dbSNPrs387907207
ebirs387907207
HLIrs387907207
Exacrs387907207
Varsomers387907207
Maprs387907207
PheGenIrs387907207
hapmaprs387907207
1000 genomesrs387907207
hgdprs387907207
ensemblrs387907207
gopubmedrs387907207
geneviewrs387907207
scholarrs387907207
googlers387907207
pharmgkbrs387907207
gwascentralrs387907207
openSNPrs387907207
23andMers387907207
23andMe allrs387907207
SNP Nexus

SNPshotrs387907207
SNPdbers387907207
MSV3drs387907207
GWAS Ctlgrs387907207
Max Magnitude0
ClinVar
Risk rs387907207(T;T)
Alt rs387907207(T;T)
Reference rs387907207(C;C)
Significance Pathogenic
Disease Thrombocytopenia
Variation info
Gene GATA1
CLNDBN Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis
Reversed 0
HGVS NC_000023.10:g.48650777C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000024620.4,