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rs2277598

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(G;G) 0
Make rs2277598(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position72735137
GeneBBS4
is asnp
is mentioned by
dbSNPrs2277598
dbSNP (old)rs2277598
ClinGenrs2277598
ebirs2277598
HLIrs2277598
Exacrs2277598
Gnomadrs2277598
Varsomers2277598
Maprs2277598
PheGenIrs2277598
Biobankrs2277598
1000 genomesrs2277598
hgdprs2277598
ensemblrs2277598
gopubmedrs2277598
geneviewrs2277598
scholarrs2277598
googlers2277598
pharmgkbrs2277598
gwascentralrs2277598
openSNPrs2277598
23andMers2277598
23andMe allrs2277598
SNPshotrs2277598
SNPdbers2277598
MSV3drs2277598
GWAS Ctlgrs2277598
GMAF0.4509
Max Magnitude0
? (A;A) (A;G) (G;G) 28



ClinVar
Risk Rs2277598(G;G)
Alt Rs2277598(G;G)
Reference Rs2277598(A;A)
Significance Probable-non-pathogenic
Disease Bardet-Biedl syndrome not provided not specified
Variation info
Gene BBS4
CLNDBN Bardet-Biedl syndrome not provided not specified
Reversed 1
HGVS NC_000015.9:g.73027478T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000020938.3, RCV000132688.1, RCV000152842.4,



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