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rs35994191

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs35994191(A;A)
Make rs35994191(A;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position177389
GeneHBA1
is asnp
is mentioned by
dbSNPrs35994191
dbSNP (classic)rs35994191
ClinGenrs35994191
ebirs35994191
HLIrs35994191
Exacrs35994191
Gnomadrs35994191
Varsomers35994191
LitVarrs35994191
Maprs35994191
PheGenIrs35994191
Biobankrs35994191
1000 genomesrs35994191
hgdprs35994191
ensemblrs35994191
geneviewrs35994191
scholarrs35994191
googlers35994191
pharmgkbrs35994191
gwascentralrs35994191
openSNPrs35994191
23andMers35994191
SNPshotrs35994191
SNPdbers35994191
MSV3drs35994191
GWAS Ctlgrs35994191
Max Magnitude0
OMIM141800
Desc
Variant0166
Relatedalso


ClinVar
Risk rs35994191(A;A)
Alt rs35994191(A;A)
Reference Rs35994191(T;T)
Significance Other
Disease HEMOGLOBIN PAVIE
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN PAVIE
Reversed 0
HGVS NC_000016.9:g.227388T>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000017186.2,



[PMID 2347082] A new hemoglobin variant found during investigations of diabetes mellitus: Hb Pavie [alpha 135 (H18) Val----Glu].