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rs34708054

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs34708054(C;G)
Make rs34708054(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position176777
GeneHBA1
is asnp
is mentioned by
dbSNPrs34708054
ebirs34708054
HLIrs34708054
Exacrs34708054
Varsomers34708054
Maprs34708054
PheGenIrs34708054
hapmaprs34708054
1000 genomesrs34708054
hgdprs34708054
ensemblrs34708054
gopubmedrs34708054
geneviewrs34708054
scholarrs34708054
googlers34708054
pharmgkbrs34708054
gwascentralrs34708054
openSNPrs34708054
23andMers34708054
23andMe allrs34708054
SNP Nexus

SNPshotrs34708054
SNPdbers34708054
MSV3drs34708054
GWAS Ctlgrs34708054
Max Magnitude0
OMIM141800
Desc
Variant0104
Relatedalso
OMIM141850
Desc
Variant0042
Relatedalso
ClinVar
Risk rs34708054(G,T;G,T)
Alt rs34708054(G,T;G,T)
Reference rs34708054(C;C)
Significance Other
Disease HEMOGLOBIN NECKER ENFANTS-MALADES
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN NECKER ENFANTS-MALADES
Reversed 0
HGVS NC_000016.9:g.226776C>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000017118.2,


[PMID 7390863] A silent hemoglobin variant: hemoglobin necker enfants-malades alpha 20 (B1) His leads to Tyr.