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rs138043021

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs138043021(C;G)
Make rs138043021(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position56496982
GeneBBS2
is asnp
is mentioned by
dbSNPrs138043021
ebirs138043021
HLIrs138043021
Exacrs138043021
Varsomers138043021
Maprs138043021
PheGenIrs138043021
hapmaprs138043021
1000 genomesrs138043021
hgdprs138043021
ensemblrs138043021
gopubmedrs138043021
geneviewrs138043021
scholarrs138043021
googlers138043021
pharmgkbrs138043021
gwascentralrs138043021
openSNPrs138043021
23andMers138043021
23andMe allrs138043021
SNP Nexus

SNPshotrs138043021
SNPdbers138043021
MSV3drs138043021
GWAS Ctlgrs138043021
Max Magnitude0
ClinVar
Risk rs138043021(G,T;G,T)
Alt rs138043021(G,T;G,T)
Reference rs138043021(C;C)
Significance Pathogenic
Disease Bardet-Biedl syndrome 2 Retinitis pigmentosa 74
Variation info
Gene BBS2
CLNDBN Bardet-Biedl syndrome 2 Retinitis pigmentosa 74
Reversed 0
HGVS NC_000016.9:g.56530894C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004840.5, RCV000190986.3,