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rs63751425

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs63751425(-;-)
Make rs63751425(-;A)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225608
GeneHBB
is asnp
is mentioned by
dbSNPrs63751425
ebirs63751425
HLIrs63751425
Exacrs63751425
Varsomers63751425
Maprs63751425
PheGenIrs63751425
hapmaprs63751425
1000 genomesrs63751425
hgdprs63751425
ensemblrs63751425
gopubmedrs63751425
geneviewrs63751425
scholarrs63751425
googlers63751425
pharmgkbrs63751425
gwascentralrs63751425
openSNPrs63751425
23andMers63751425
23andMe allrs63751425
SNP Nexus

SNPshotrs63751425
SNPdbers63751425
MSV3drs63751425
GWAS Ctlgrs63751425
Max Magnitude0
OMIM141900
Desc
Variant0515
Relatedalso
ClinVar
Risk rs63751425(;)
Alt rs63751425(;)
Reference rs63751425(A;A)
Significance Other
Disease HEMOGLOBIN TRENTO
Variation info
Gene HBB
CLNDBN HEMOGLOBIN TRENTO
Reversed 1
HGVS NC_000011.9:g.5246838delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000016871.2,


[PMID 12603089] Hb Trento: an elongated C-terminal beta chain due to a new frameshift mutation [beta144 (-A)].