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rs28933077

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0
(T;T) 0 common in complete genomics
Make rs28933077(G;G)
Make rs28933077(G;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5234026
GeneHBD
is asnp
is mentioned by
dbSNPrs28933077
dbSNP (classic)rs28933077
ClinGenrs28933077
ebirs28933077
HLIrs28933077
Exacrs28933077
Gnomadrs28933077
Varsomers28933077
LitVarrs28933077
Maprs28933077
PheGenIrs28933077
Biobankrs28933077
1000 genomesrs28933077
hgdprs28933077
ensemblrs28933077
geneviewrs28933077
scholarrs28933077
googlers28933077
pharmgkbrs28933077
gwascentralrs28933077
openSNPrs28933077
23andMers28933077
SNPshotrs28933077
SNPdbers28933077
MSV3drs28933077
GWAS Ctlgrs28933077
Max Magnitude0
OMIM142000
DescHEMOGLOBIN A(2) SANT' ANTIOCO
Variant0036
Relatedalso



ClinVar
Risk rs28933077(G;G)
Alt rs28933077(G;G)
Reference Rs28933077(T;T)
Significance Other
Disease HEMOGLOBIN A(2) SANT' ANTIOCO
Variation info
Gene HBD
CLNDBN HEMOGLOBIN A(2) SANT' ANTIOCO
Reversed 1
HGVS NC_000011.9:g.5255256A>C
CLNSRC HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016230.1,



[PMID 7713748] Hb A2-Sant' Antioco [alpha 2 delta (2)93(F9)Cys-->Gly]: a new delta chain variant identified by sequencing of amplified DNA.