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rs1135101

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs1135101(A;A)
Make rs1135101(A;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226788
GeneHBB
is asnp
is mentioned by
dbSNPrs1135101
ebirs1135101
HLIrs1135101
Exacrs1135101
Varsomers1135101
Maprs1135101
PheGenIrs1135101
hapmaprs1135101
1000 genomesrs1135101
hgdprs1135101
ensemblrs1135101
gopubmedrs1135101
geneviewrs1135101
scholarrs1135101
googlers1135101
pharmgkbrs1135101
gwascentralrs1135101
openSNPrs1135101
23andMers1135101
23andMe allrs1135101
SNP Nexus

SNPshotrs1135101
SNPdbers1135101
MSV3drs1135101
GWAS Ctlgrs1135101
Max Magnitude0
OMIM141900
Desc
Variant0516
Relatedalso
ClinVar
Risk rs1135101(A,C;A,C)
Alt rs1135101(A,C;A,C)
Reference rs1135101(T;T)
Significance Other
Disease HEMOGLOBIN SANTANDER
Variation info
Gene HBB
CLNDBN HEMOGLOBIN SANTANDER
Reversed 1
HGVS NC_000011.9:g.5248018A>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016872.2,


[PMID 12603091] Hb Santander [beta34(B16)Val --> Asp (GTC --> GAC)]: a new unstable variant found as a de novo mutation in a Spanish patient.