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rs35717854

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs35717854(C;C)
Make rs35717854(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5254292
GeneHBG2
is asnp
is mentioned by
dbSNPrs35717854
dbSNP (classic)rs35717854
ClinGenrs35717854
ebirs35717854
HLIrs35717854
Exacrs35717854
Gnomadrs35717854
Varsomers35717854
LitVarrs35717854
Maprs35717854
PheGenIrs35717854
Biobankrs35717854
1000 genomesrs35717854
hgdprs35717854
ensemblrs35717854
geneviewrs35717854
scholarrs35717854
googlers35717854
pharmgkbrs35717854
gwascentralrs35717854
openSNPrs35717854
23andMers35717854
SNPshotrs35717854
SNPdbers35717854
MSV3drs35717854
GWAS Ctlgrs35717854
Max Magnitude0
OMIM142250
Desc
Variant0040
Relatedalso


ClinVar
Risk rs35717854(C;C)
Alt rs35717854(C;C)
Reference Rs35717854(G;G)
Significance Other
Disease HEMOGLOBIN F (MACEDONIA II)
Variation info
Gene HBG2
CLNDBN HEMOGLOBIN F (MACEDONIA II)
Reversed 1
HGVS NC_000011.9:g.5275522C>G
CLNSRC HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016135.1,



[PMID 7713741] Hb F-Macedonia-II [G gamma 104(G6)Lys-->Asn]: a new gamma chain variant.