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rs104894224

From SNPedia

Merged intors34474104
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894224(C;T)
Make rs104894224(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5254417
GeneHBG2, ZNF285B
is asnp
is mentioned by
dbSNPrs104894224
dbSNP (classic)rs104894224
ClinGenrs104894224
ebirs104894224
HLIrs104894224
Exacrs104894224
Gnomadrs104894224
Varsomers104894224
LitVarrs104894224
Maprs104894224
PheGenIrs104894224
Biobankrs104894224
1000 genomesrs104894224
hgdprs104894224
ensemblrs104894224
geneviewrs104894224
scholarrs104894224
googlers104894224
pharmgkbrs104894224
gwascentralrs104894224
openSNPrs104894224
23andMers104894224
SNPshotrs104894224
SNPdbers104894224
MSV3drs104894224
GWAS Ctlgrs104894224
StatusMerged into rs34474104
Max Magnitude0
OMIM142250
Desc
Variant0025
Relatedalso
ClinVar
Risk rs104894224(T;T)
Alt rs104894224(T;T)
Reference Rs104894224(C;C)
Significance Pathogenic
Disease Cyanosis
Variation info
Gene HBG2 LOC100653006
CLNDBN Cyanosis, transient neonatal
Reversed 1
HGVS NC_000011.9:g.5275647G>A
CLNSRC OMIM Allelic Variant
CLNACC SCV000036389.1,