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rs34713708

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs34713708(A;G)
Make rs34713708(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position177320
GeneHBA1
is asnp
is mentioned by
dbSNPrs34713708
ebirs34713708
HLIrs34713708
Exacrs34713708
Varsomers34713708
Maprs34713708
PheGenIrs34713708
hapmaprs34713708
1000 genomesrs34713708
hgdprs34713708
ensemblrs34713708
gopubmedrs34713708
geneviewrs34713708
scholarrs34713708
googlers34713708
pharmgkbrs34713708
gwascentralrs34713708
openSNPrs34713708
23andMers34713708
23andMe allrs34713708
SNP Nexus

SNPshotrs34713708
SNPdbers34713708
MSV3drs34713708
GWAS Ctlgrs34713708
Merged fromRs63750546
Max Magnitude0
OMIM141800
Desc
Variant0140
Relatedalso


ClinVar
Risk rs34713708(G;G)
Alt rs34713708(G;G)
Reference rs34713708(A;A)
Significance Other
Disease HEMOGLOBIN STRUMICA HEMOGLOBIN SERBIA
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN STRUMICA HEMOGLOBIN SERBIA
Reversed 0
HGVS NC_000016.9:g.227319A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017161.2, RCV000017162.2,



[PMID 1191675] Hemoglobin-Strumica or alpha 2 112(G19) His replaced by Arg beta 2. (With an addendum: hemoglobin-J-Paris-I, alpha 2 12(A10) Ala replaced by Asp beta 2, in the same population).


[PMID 1225585] Hb Serbia (alpha 112 (G19) His leads to Arg), a new haemoglobin variant from Yugoslavia.