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rs63749958

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AAGGTG;AAGGTG) 0 common in complete genomics
(AGGTGA;AGGTGA) 0 common in clinvar
Make rs63749958(-;-)
Make rs63749958(-;AAGGTG)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226965
GeneHBB
is asnp
is mentioned by
dbSNPrs63749958
ebirs63749958
HLIrs63749958
Exacrs63749958
Varsomers63749958
Maprs63749958
PheGenIrs63749958
hapmaprs63749958
1000 genomesrs63749958
hgdprs63749958
ensemblrs63749958
gopubmedrs63749958
geneviewrs63749958
scholarrs63749958
googlers63749958
pharmgkbrs63749958
gwascentralrs63749958
openSNPrs63749958
23andMers63749958
23andMe allrs63749958
SNP Nexus

SNPshotrs63749958
SNPdbers63749958
MSV3drs63749958
GWAS Ctlgrs63749958
Max Magnitude0
OMIM141900
Desc
Variant0162
Relatedalso
ClinVar
Risk rs63749958(;)
Alt rs63749958(;)
Reference rs63749958(GGTGAA;GGTGAA)
Significance Other
Disease HEMOGLOBIN LYON
Variation info
Gene HBB
CLNDBN HEMOGLOBIN LYON
Reversed 1
HGVS NC_000011.9:g.5248195_5248200delCACCTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000016461.2,


[PMID 4407311] Haemoglobin Lyon (beta17-18 (A 14-15) Lys-Val leads to O). Determination by sequenator analysis.