Rs2277598

From SNPedia
Jump to: navigation, search

Orientationminus
is asnp
is mentioned by
dbSNPrs2277598
PheGenIrs2277598
nextbiors2277598
hapmaprs2277598
1000 genomesrs2277598
hgdprs2277598
ensemblrs2277598
gopubmedrs2277598
geneviewrs2277598
scholarrs2277598
googlers2277598
pharmgkbrs2277598
gwascentralrs2277598
openSNPrs2277598
23andMers2277598
23andMe allrs2277598
SNP Nexus

SNPshotrs2277598
SNPdbers2277598
MSV3drs2277598
GeneBBS4
Chromosome15
Orientationminus
GMAF0.4509
Position73027478
ReferenceGRCh37 37.1/131
Max Magnitude0
Geno Mag Summary
(A;A) 0 common in clinvar
(G;G) 0
Make rs2277598(A;G)
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene BBS4
allele C
frequency 0.225
sift TOLERATED
HuRef 1103645651642
Disease Association Defects in BBS4 are the cause of Bardet-Biedl syndrome type 4 (BBS4) (MIM:209900). Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, autosomal recessive disorder characterized by usually severe pigmentary retinopathy, early onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. A relatively high incidence of BBS is found in the mixed Arab populations of Kuwait and in Bedouin tribes throughout the Middle East, most likely due to the high rate of consaguinity in these populations and a founder effect.



Neighborrs28938468
Distance30


ClinVar
Risk rs2277598(G;G)
Alt rs2277598(G;G)
Reference rs2277598(A;A)
Significance 2
Disease Bardet-Biedl syndrome
ClinVar info
Gene BBS4
CLNDBN Bardet-Biedl syndrome
Reversed 1
CLNHGVS NC_000015.9:g.73027478T>C
CLNSRC GeneReviews
CLNACC RCV000020938.2



[PMID 12016587OA-icon.png] BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.


GET Evidence
BBS4-I354T
aa_change Ile354Thr
aa_change_short I354T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.529002
summary