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rs35321913

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs35321913(C;G)
Make rs35321913(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5250052
GeneHBG1
is asnp
is mentioned by
dbSNPrs35321913
dbSNP (classic)rs35321913
ClinGenrs35321913
ebirs35321913
HLIrs35321913
Exacrs35321913
Gnomadrs35321913
Varsomers35321913
LitVarrs35321913
Maprs35321913
PheGenIrs35321913
Biobankrs35321913
1000 genomesrs35321913
hgdprs35321913
ensemblrs35321913
geneviewrs35321913
scholarrs35321913
googlers35321913
pharmgkbrs35321913
gwascentralrs35321913
openSNPrs35321913
23andMers35321913
SNPshotrs35321913
SNPdbers35321913
MSV3drs35321913
GWAS Ctlgrs35321913
Max Magnitude0
OMIM142200
Desc
Variant0030
Relatedalso


ClinVar
Risk rs35321913(G;G)
Alt rs35321913(G;G)
Reference Rs35321913(C;C)
Significance Pathogenic
Disease Fetal hemoglobin quantitative trait locus 1
Variation info
Gene HBG1
CLNDBN Fetal hemoglobin quantitative trait locus 1
Reversed 1
HGVS NC_000011.9:g.5271282G>C
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016178.25,



[PMID 2224140] The Brazilian type of nondeletional A gamma-fetal hemoglobin has a C----G substitution at nucleotide -195 of the A gamma-globin gene.