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rs35890380

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs35890380(A;A)
Make rs35890380(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226649
GeneHBB
is asnp
is mentioned by
dbSNPrs35890380
ebirs35890380
HLIrs35890380
Exacrs35890380
Varsomers35890380
Maprs35890380
PheGenIrs35890380
hapmaprs35890380
1000 genomesrs35890380
hgdprs35890380
ensemblrs35890380
gopubmedrs35890380
geneviewrs35890380
scholarrs35890380
googlers35890380
pharmgkbrs35890380
gwascentralrs35890380
openSNPrs35890380
23andMers35890380
23andMe allrs35890380
SNP Nexus

SNPshotrs35890380
SNPdbers35890380
MSV3drs35890380
GWAS Ctlgrs35890380
Max Magnitude0
OMIM141900
Desc
Variant0087
Relatedalso
ClinVar
Risk rs35890380(A,G,T;A,G,T)
Alt rs35890380(A,G,T;A,G,T)
Reference rs35890380(C;C)
Significance Other
Disease HEMOGLOBIN G (SZUHU) HEMOGLOBIN GIFU
Variation info
Gene HBB
CLNDBN HEMOGLOBIN G (SZUHU) HEMOGLOBIN GIFU
Reversed 1
HGVS NC_000011.9:g.5247879G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000016354.2, RCV000016355.2,


[PMID 1150295] Haemoglobin G-Szuhu, beta80 Asn-Lys, in the homozygous state in a patient with abetalipoproteinaemia.


[PMID 1802885] Six rare hemoglobin variants found in Sicily.


[PMID 5820686] Hemoglobin G Szuhu: beta80 Asn replaced by Lys.