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rs387907599

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907599(C;T)
Make rs387907599(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position12884962
GeneKLF1
is asnp
is mentioned by
dbSNPrs387907599
dbSNP (classic)rs387907599
ClinGenrs387907599
ebirs387907599
HLIrs387907599
Exacrs387907599
Gnomadrs387907599
Varsomers387907599
LitVarrs387907599
Maprs387907599
PheGenIrs387907599
Biobankrs387907599
1000 genomesrs387907599
hgdprs387907599
ensemblrs387907599
geneviewrs387907599
scholarrs387907599
googlers387907599
pharmgkbrs387907599
gwascentralrs387907599
openSNPrs387907599
23andMers387907599
SNPshotrs387907599
SNPdbers387907599
MSV3drs387907599
GWAS Ctlgrs387907599
Max Magnitude0
ClinVar
Risk rs387907599(T;T)
Alt rs387907599(T;T)
Reference Rs387907599(C;C)
Significance Pathogenic
Disease BLOOD GROUP--LUTHERAN INHIBITOR Congenital dyserythropoietic anemia Fetal hemoglobin quantitative trait locus 6
Variation info
Gene KLF1
CLNDBN BLOOD GROUP--LUTHERAN INHIBITOR Congenital dyserythropoietic anemia, type IV Fetal hemoglobin quantitative trait locus 6
Reversed 1
HGVS NC_000019.9:g.12995776G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000050237.1,