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rs33970699

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
(CT;CT) 0 common in clinvar
Make rs33970699(C;G)
Make rs33970699(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225618
GeneHBB
is asnp
is mentioned by
dbSNPrs33970699
ebirs33970699
HLIrs33970699
Exacrs33970699
Varsomers33970699
Maprs33970699
PheGenIrs33970699
hapmaprs33970699
1000 genomesrs33970699
hgdprs33970699
ensemblrs33970699
gopubmedrs33970699
geneviewrs33970699
scholarrs33970699
googlers33970699
pharmgkbrs33970699
gwascentralrs33970699
openSNPrs33970699
23andMers33970699
23andMe allrs33970699
SNP Nexus

SNPshotrs33970699
SNPdbers33970699
MSV3drs33970699
GWAS Ctlgrs33970699
Max Magnitude0
OMIM141900
Desc
Variant0532
Relatedalso
ClinVar
Risk rs33970699(G;G)
Alt rs33970699(G;G)
Reference rs33970699(C;C)
Significance Other
Disease HEMOGLOBIN KOCHI
Variation info
Gene HBB
CLNDBN HEMOGLOBIN KOCHI
Reversed 1
HGVS NC_000011.9:g.5246848G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000016884.2,


[PMID 15768550] Hb KOCHI [beta141(H19)Leu-->Val (g.1404 C-->G); 144-->146(HC1-3)Lys-Tyr-His-->0 (g.1413 A-->T)]: a new variant with increased oxygen affinity.