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rs34504387

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs34504387(C;C)
Make rs34504387(C;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position176771
GeneHBA1
is asnp
is mentioned by
dbSNPrs34504387
ebirs34504387
HLIrs34504387
Exacrs34504387
Varsomers34504387
Maprs34504387
PheGenIrs34504387
hapmaprs34504387
1000 genomesrs34504387
hgdprs34504387
ensemblrs34504387
gopubmedrs34504387
geneviewrs34504387
scholarrs34504387
googlers34504387
pharmgkbrs34504387
gwascentralrs34504387
openSNPrs34504387
23andMers34504387
23andMe allrs34504387
SNP Nexus

SNPshotrs34504387
SNPdbers34504387
MSV3drs34504387
GWAS Ctlgrs34504387
Max Magnitude0
OMIM141800
Desc
Variant0049
Relatedalso
ClinVar
Risk rs34504387(C,T;C,T)
Alt rs34504387(C,T;C,T)
Reference rs34504387(G;G)
Significance Other
Disease HEMOGLOBIN HANDSWORTH
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN HANDSWORTH
Reversed 0
HGVS NC_000016.9:g.226770G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000017037.2,


[PMID 852596] Haemoglobin Handsworth alpha 18 (A16) glycine leads to arginne.


[PMID 4030381] Hemoglobin Handsworth or alpha2 18(A16)Gly----Arg beta2 in a Saudi newborn.


[PMID 7216818] Hemoglobin Handsworth (gamma 18 (A16) Gly leads to Arg) in a Chinese.