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rs121918328

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918328(C;C)
Make rs121918328(C;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position122742757
GeneBBS12
is asnp
is mentioned by
dbSNPrs121918328
ebirs121918328
HLIrs121918328
Exacrs121918328
Varsomers121918328
Maprs121918328
PheGenIrs121918328
hapmaprs121918328
1000 genomesrs121918328
hgdprs121918328
ensemblrs121918328
gopubmedrs121918328
geneviewrs121918328
scholarrs121918328
googlers121918328
pharmgkbrs121918328
gwascentralrs121918328
openSNPrs121918328
23andMers121918328
23andMe allrs121918328
SNP Nexus

SNPshotrs121918328
SNPdbers121918328
MSV3drs121918328
GWAS Ctlgrs121918328
Max Magnitude0
OMIM610683
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121918328(C;C)
Alt rs121918328(C;C)
Reference rs121918328(G;G)
Significance Pathogenic
Disease Bardet-Biedl syndrome 12
Variation info
Gene BBS12
CLNDBN Bardet-Biedl syndrome 12
Reversed 0
HGVS NC_000004.11:g.123663912G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001209.3,