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rs724159947

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs724159947(C;T)
Make rs724159947(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position11869601
GeneETV6
is asnp
is mentioned by
dbSNPrs724159947
dbSNP (classic)rs724159947
ClinGenrs724159947
ebirs724159947
HLIrs724159947
Exacrs724159947
Gnomadrs724159947
Varsomers724159947
LitVarrs724159947
Maprs724159947
PheGenIrs724159947
Biobankrs724159947
1000 genomesrs724159947
hgdprs724159947
ensemblrs724159947
geneviewrs724159947
scholarrs724159947
googlers724159947
pharmgkbrs724159947
gwascentralrs724159947
openSNPrs724159947
23andMers724159947
SNPshotrs724159947
SNPdbers724159947
MSV3drs724159947
GWAS Ctlgrs724159947
Max Magnitude0
ClinVar
Risk rs724159947(T;T)
Alt rs724159947(T;T)
Reference Rs724159947(C;C)
Significance Pathogenic
Disease Hematologic neoplasm Thrombocytopenia Thrombocytopenia 5
Variation info
Gene ETV6
CLNDBN Hematologic neoplasm Thrombocytopenia Thrombocytopenia 5
Reversed 0
HGVS NC_000012.11:g.12022535C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000149804.1, RCV000157611.6,