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rs4784677

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(T;T) 0 common in complete genomics
Make rs4784677(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position56514589
GeneBBS2
is asnp
is mentioned by
dbSNPrs4784677
ebirs4784677
HLIrs4784677
Exacrs4784677
Varsomers4784677
Maprs4784677
PheGenIrs4784677
hapmaprs4784677
1000 genomesrs4784677
hgdprs4784677
ensemblrs4784677
gopubmedrs4784677
geneviewrs4784677
scholarrs4784677
googlers4784677
pharmgkbrs4784677
gwascentralrs4784677
openSNPrs4784677
23andMers4784677
23andMe allrs4784677
SNP Nexus

SNPshotrs4784677
SNPdbers4784677
MSV3drs4784677
GWAS Ctlgrs4784677
GMAF0.004132
Max Magnitude0
? (C;C) (C;T) (T;T) 28
OMIM606151
Desc
Variant0013
Relatedalso


ClinVar
Risk rs4784677(T;T)
Alt rs4784677(T;T)
Reference rs4784677(C;C)
Significance Pathogenic
Disease Bardet-biedl syndrome 2/6
Variation info
Gene BBS2
CLNDBN Bardet-biedl syndrome 2/6, digenic
Reversed 0
HGVS NC_000016.9:g.56548501C\x3d
CLNSRC OMIM Allelic Variant
CLNACC RCV000004838.3,



GET Evidence
BBS2-S70N
aa_change Ser70Asn
aa_change_short S70N
impact benign
qualified_impact Insufficiently evaluated benign
overall_frequency 0.994423
summary