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rs63750943

From SNPedia

Orientationplus
Stabilizedplus
Make rs63750943(-;-)
Make rs63750943(-;GAC)
Make rs63750943(GAC;GAC)
ReferenceGRCh38 38.1/141
Chromosome16
Position173255
GeneHBA2
is asnp
is mentioned by
dbSNPrs63750943
ebirs63750943
HLIrs63750943
Exacrs63750943
Varsomers63750943
Maprs63750943
PheGenIrs63750943
hapmaprs63750943
1000 genomesrs63750943
hgdprs63750943
ensemblrs63750943
gopubmedrs63750943
geneviewrs63750943
scholarrs63750943
googlers63750943
pharmgkbrs63750943
gwascentralrs63750943
openSNPrs63750943
23andMers63750943
23andMe allrs63750943
SNP Nexus

SNPshotrs63750943
SNPdbers63750943
MSV3drs63750943
GWAS Ctlgrs63750943
Max Magnitude
OMIM141850
Desc
Variant0034
Relatedalso
ClinVar
Risk rs63750943(;)
Alt rs63750943(;)
Reference rs63750943(GAC;GAC)
Significance Other
Disease HEMOGLOBIN WATTS
Variation info
Gene HBA2
CLNDBN HEMOGLOBIN WATTS
Reversed 0
HGVS NC_000016.9:g.223254_223256delGAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000016945.1,


[PMID 9255611] Hb Watts [alpha 74(EF3) or alpha 75(EF4)Asp-->0]: a shortened alpha chain variant due to the deletion of three nucleotides in exon 2 of the alpha 2-globin gene.