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rs35812514

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs35812514(A;A)
Make rs35812514(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5254324
GeneHBG2
is asnp
is mentioned by
dbSNPrs35812514
dbSNP (classic)rs35812514
ClinGenrs35812514
ebirs35812514
HLIrs35812514
Exacrs35812514
Gnomadrs35812514
Varsomers35812514
LitVarrs35812514
Maprs35812514
PheGenIrs35812514
Biobankrs35812514
1000 genomesrs35812514
hgdprs35812514
ensemblrs35812514
geneviewrs35812514
scholarrs35812514
googlers35812514
pharmgkbrs35812514
gwascentralrs35812514
openSNPrs35812514
23andMers35812514
SNPshotrs35812514
SNPdbers35812514
MSV3drs35812514
GWAS Ctlgrs35812514
Max Magnitude0
OMIM142250
Desc
Variant0006
Relatedalso
ClinVar
Risk rs35812514(A;A)
Alt rs35812514(A;A)
Reference Rs35812514(G;G)
Significance Other
Disease HEMOGLOBIN F (COLUMBUS-GA)
Variation info
Gene HBG2
CLNDBN HEMOGLOBIN F (COLUMBUS-GA)
Reversed 1
HGVS NC_000011.9:g.5275554C>T
CLNSRC HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016102.1,


[PMID 6186636] Hb F-Columbus-Ga or alpha 2 G gamma 2 94(FGl) Asp replaced by Asn.