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rs28938468

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28938468(A;A)
Make rs28938468(A;C)
ReferenceGRCh38 38.1/141
Chromosome15
Position72735167
GeneBBS4
is asnp
is mentioned by
dbSNPrs28938468
ebirs28938468
HLIrs28938468
Exacrs28938468
Varsomers28938468
Maprs28938468
PheGenIrs28938468
hapmaprs28938468
1000 genomesrs28938468
hgdprs28938468
ensemblrs28938468
gopubmedrs28938468
geneviewrs28938468
scholarrs28938468
googlers28938468
pharmgkbrs28938468
gwascentralrs28938468
openSNPrs28938468
23andMers28938468
23andMe allrs28938468
SNP Nexus

SNPshotrs28938468
SNPdbers28938468
MSV3drs28938468
GWAS Ctlgrs28938468
Max Magnitude0
OMIM600374
DescBARDET-BIEDL SYNDROME 4
Variant0004
Relatedalso
Neighborrs2277598
Distance30
ClinVar
Risk rs28938468(A;A)
Alt rs28938468(A;A)
Reference rs28938468(C;C)
Significance Pathogenic
Disease Bardet-Biedl syndrome 4
Variation info
Gene BBS4
CLNDBN Bardet-Biedl syndrome 4
Reversed 0
HGVS NC_000015.9:g.73027508C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009719.3,