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rs121918327

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918327(C;T)
Make rs121918327(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position122742955
GeneBBS12
is asnp
is mentioned by
dbSNPrs121918327
ebirs121918327
HLIrs121918327
Exacrs121918327
Varsomers121918327
Maprs121918327
PheGenIrs121918327
hapmaprs121918327
1000 genomesrs121918327
hgdprs121918327
ensemblrs121918327
gopubmedrs121918327
geneviewrs121918327
scholarrs121918327
googlers121918327
pharmgkbrs121918327
gwascentralrs121918327
openSNPrs121918327
23andMers121918327
23andMe allrs121918327
SNP Nexus

SNPshotrs121918327
SNPdbers121918327
MSV3drs121918327
GWAS Ctlgrs121918327
Max Magnitude0
OMIM610683
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918327(T;T)
Alt rs121918327(T;T)
Reference rs121918327(C;C)
Significance Pathogenic
Disease Bardet-Biedl syndrome 12
Variation info
Gene BBS12
CLNDBN Bardet-Biedl syndrome 12
Reversed 0
HGVS NC_000004.11:g.123664110C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001206.3,