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rs151344630

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs151344630(C;G)
Make rs151344630(G;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position122742215
GeneBBS12
is asnp
is mentioned by
dbSNPrs151344630
ebirs151344630
HLIrs151344630
Exacrs151344630
Varsomers151344630
Maprs151344630
PheGenIrs151344630
hapmaprs151344630
1000 genomesrs151344630
hgdprs151344630
ensemblrs151344630
gopubmedrs151344630
geneviewrs151344630
scholarrs151344630
googlers151344630
pharmgkbrs151344630
gwascentralrs151344630
openSNPrs151344630
23andMers151344630
23andMe allrs151344630
SNP Nexus

SNPshotrs151344630
SNPdbers151344630
MSV3drs151344630
GWAS Ctlgrs151344630
Max Magnitude0
ClinVar
Risk rs151344630(G;G)
Alt rs151344630(G;G)
Reference rs151344630(C;C)
Significance Pathogenic
Disease Bardet-Biedl syndrome
Variation info
Gene BBS12
CLNDBN Bardet-Biedl syndrome
Reversed 0
HGVS NC_000004.11:g.123663370C>G
CLNSRC ClinVar
CLNACC RCV000058869.1,