Have questions? Visit https://www.reddit.com/r/SNPedia

rs33984621

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs33984621(C;T)
Make rs33984621(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position177119
GeneHBA1
is asnp
is mentioned by
dbSNPrs33984621
ebirs33984621
HLIrs33984621
Exacrs33984621
Varsomers33984621
Maprs33984621
PheGenIrs33984621
hapmaprs33984621
1000 genomesrs33984621
hgdprs33984621
ensemblrs33984621
gopubmedrs33984621
geneviewrs33984621
scholarrs33984621
googlers33984621
pharmgkbrs33984621
gwascentralrs33984621
openSNPrs33984621
23andMers33984621
23andMe allrs33984621
SNP Nexus

SNPshotrs33984621
SNPdbers33984621
MSV3drs33984621
GWAS Ctlgrs33984621
Max Magnitude0
OMIM141800
Desc
Variant0027
Relatedalso
OMIM141800
Desc
Variant0200
Relatedalso
OMIM141850
Desc
Variant0052
Relatedalso
ClinVar
Risk rs33984621(A,G,T;A,G,T)
Alt rs33984621(A,G,T;A,G,T)
Reference rs33984621(C;C)
Significance Other
Disease HEMOGLOBIN GODAVARI HEMOGLOBIN DENMARK HILL
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN GODAVARI HEMOGLOBIN DENMARK HILL
Reversed 0
HGVS NC_000016.9:g.227118C>A; NC_000016.9:g.227118C>G
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000017219.2, RCV000017014.2,


[PMID 5577460] Haemoglobin Rampa: Alpha 95 Pro--Ser.


[PMID 1917529] Two new cases of Hb Denmark Hill [alpha 95(G2)Pro----Ala] discovered in south-west France: electrophoretical and chromatographical considerations.


[PMID 5085669] Haemoglobin Denmark Hill 95 (G2) Pro-Ala, a variant with unusual electrophoretic and oxygen-binding properties.


[PMID 9494044] Hb Godavari [alpha 95(G2)Pro-->Thr]: a neutral amino acid substitution in the alpha 1 beta 2 interface that modifies the electrophoretic mobility of hemoglobin.