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rs63749918

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GGT;GGT) 0
(GTG;GTG) 0 common in clinvar
Make rs63749918(-;-)
Make rs63749918(-;GGT)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226944
GeneHBB
is asnp
is mentioned by
dbSNPrs63749918
ebirs63749918
HLIrs63749918
Exacrs63749918
Varsomers63749918
Maprs63749918
PheGenIrs63749918
hapmaprs63749918
1000 genomesrs63749918
hgdprs63749918
ensemblrs63749918
gopubmedrs63749918
geneviewrs63749918
scholarrs63749918
googlers63749918
pharmgkbrs63749918
gwascentralrs63749918
openSNPrs63749918
23andMers63749918
23andMe allrs63749918
SNP Nexus

SNPshotrs63749918
SNPdbers63749918
MSV3drs63749918
GWAS Ctlgrs63749918
Max Magnitude0
OMIM141900
Desc
Variant0449
Relatedalso


ClinVar
Risk rs63749918(;)
Alt rs63749918(;)
Reference rs63749918(GTG;GTG)
Significance Other
Disease HEMOGLOBIN HIGASHITOCHIGI HEMOGLOBIN HT
Variation info
Gene HBB
CLNDBN HEMOGLOBIN HIGASHITOCHIGI HEMOGLOBIN HT
Reversed 1
HGVS NC_000011.9:g.5248174_5248176delACC
CLNSRC OMIM Allelic Variant
CLNACC RCV000016803.2, RCV000016804.2,



[PMID 8294206] Hb Higashitochigi (Hb Ht) [ beta 24(B6) or beta 25(B7) glycine deleted]: a new unstable variant expressing cyanosis.