Rs11739136

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Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs11739136(C;T)
Make rs11739136(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position170383792
GeneKCNIP1, KCNMB1
is asnp
is mentioned by
dbSNPrs11739136
PheGenIrs11739136
nextbiors11739136
hapmaprs11739136
1000 genomesrs11739136
hgdprs11739136
ensemblrs11739136
gopubmedrs11739136
geneviewrs11739136
scholarrs11739136
googlers11739136
pharmgkbrs11739136
gwascentralrs11739136
openSNPrs11739136
23andMers11739136
23andMe allrs11739136
SNP Nexus

SNPshotrs11739136
SNPdbers11739136
MSV3drs11739136
GMAF0.09688
Max Magnitude0
? (C;C) (C;T) (T;T) 28
OMIM603951
Desc
Variant0001
Relatedalso


ClinVar
Risk rs11739136(T;T)
Alt rs11739136(T;T)
Reference rs11739136(C;C)
Significance Pathogenic
Disease Hypertension
Variation info
Gene KCNMB1 KCNIP1
CLNDBN Hypertension, diastolic, resistance to
Reversed 0
HGVS NC_000005.9:g.169810796C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006304.1,



[PMID 18389087OA-icon.png] Rarity of Somatic Mutation and Frequency of Normal Sequence Variation Detected in Sporadic Colon Adenocarcinoma Using High-Throughput cDNA Sequencing.


[PMID 18496125] Interactions among genetic variants from contractile pathway of vascular smooth muscle cell in essential hypertension susceptibility of Chinese Han population.


[PMID 18535015OA-icon.png] An african-specific functional polymorphism in KCNMB1 shows sex-specific association with asthma severity.


[PMID 18854753] The KCNMB1 Glu65Lys polymorphism associates with reduced systolic and diastolic blood pressure in the Inter99 study of 5729 Danes.


GET Evidence
KCNMB1-E65K
aa_change Glu65Lys
aa_change_short E65K
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0873768
summary