Rs11739136

Orientation

plus

is a	snp
is	mentioned by
dbSNP	rs11739136
PheGenI	rs11739136
nextbio	rs11739136
hapmap	rs11739136
1000 genomes	rs11739136
hgdp	rs11739136
ensembl	rs11739136
gopubmed	rs11739136
geneview	rs11739136
scholar	rs11739136
google	rs11739136
pharmgkb	rs11739136
gwascentral	rs11739136
openSNP	rs11739136
23andMe	rs11739136
23andMe all	rs11739136
SNP Nexus
SNPshot	rs11739136
SNPdbe	rs11739136
MSV3d	rs11739136

Gene	KCNIP1, KCNMB1

Chromosome

5

Orientation

plus

Position

169810796

Reference

GRCh37.p2 37.2/134

Max Magnitude

0

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs11739136(C;T)

Make rs11739136(T;T)

?	(C;C) (C;T) (T;T)	28

OMIM	603951
Desc
Variant	0001
Related	also

ClinVar
Risk	rs11739136(T;T)
Normal	rs11739136(C;C)
Significance	5
Disease	Hypertension
ClinVar	info, info
Gene	KCNMB1, KCNIP1
CLNDBN	Hypertension, diastolic, resistance to
Reversed	0
CLNHGVS	NC_000005.9:g.169810796C>T
CLNSRC	OMIM Allelic Variant

[PMID 18389087] 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 18535015] 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