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rs33935673

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs33935673(A;G)
Make rs33935673(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225689
GeneHBB
is asnp
is mentioned by
dbSNPrs33935673
ebirs33935673
HLIrs33935673
Exacrs33935673
Varsomers33935673
Maprs33935673
PheGenIrs33935673
hapmaprs33935673
1000 genomesrs33935673
hgdprs33935673
ensemblrs33935673
gopubmedrs33935673
geneviewrs33935673
scholarrs33935673
googlers33935673
pharmgkbrs33935673
gwascentralrs33935673
openSNPrs33935673
23andMers33935673
23andMe allrs33935673
SNP Nexus

SNPshotrs33935673
SNPdbers33935673
MSV3drs33935673
GWAS Ctlgrs33935673
Max Magnitude0
OMIM141900
Desc
Variant0213
Relatedalso
OMIM141900
Desc
Variant0250
Relatedalso
ClinVar
Risk rs33935673(C,G;C,G)
Alt rs33935673(C,G;C,G)
Reference rs33935673(A;A)
Significance Untested
Disease beta Thalassemia
Variation info
Gene HBB
CLNDBN beta Thalassemia
Reversed 1
HGVS NC_000011.9:g.5246919T>C
CLNSRC ClinVar LabCorp
CLNACC RCV000029992.1,


[PMID 700140] The hemoglobin P-Galveston-Hb-C conduction in members of a black family from South Carolina.


[PMID 1164567] A Swiss family with hemoglobin P Galveston beta117His leads to Arg, including two patients with hb P/beta thalassemia.


[PMID 10870891] Identification of the nucleotide change (CAC-->CGC) responsible for Hb P-Galveston [BETA117(G19)His-->Arg].


[PMID 12386379] Diagnosis of Hemoglobinopathies by High-Performance Liquid Chromatography.


[PMID 14109943] HAEMOGLOBINS N AND P IN ITALIAN FAMILIES.


[PMID 20395516] Comprehensive and efficient HBB mutation analysis for detection of beta-hemoglobinopathies in a pan-ethnic population. [PMID 5775133] Hemoglobin P (alpha 2 beta 2 117 Arg): structure and properties.


[PMID 6687721] Hemoglobin saitama or beta 117 (G19) His leads to Pro, a new variant causing hemolytic disease.