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rs121908174

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908174(G;G)
Make rs121908174(G;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position56514574
GeneBBS2
is asnp
is mentioned by
dbSNPrs121908174
ebirs121908174
HLIrs121908174
Exacrs121908174
Varsomers121908174
Maprs121908174
PheGenIrs121908174
hapmaprs121908174
1000 genomesrs121908174
hgdprs121908174
ensemblrs121908174
gopubmedrs121908174
geneviewrs121908174
scholarrs121908174
googlers121908174
pharmgkbrs121908174
gwascentralrs121908174
openSNPrs121908174
23andMers121908174
23andMe allrs121908174
SNP Nexus

SNPshotrs121908174
SNPdbers121908174
MSV3drs121908174
GWAS Ctlgrs121908174
Max Magnitude0
OMIM606151
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121908174(G;G)
Alt rs121908174(G;G)
Reference rs121908174(T;T)
Significance Pathogenic
Disease Bardet-Biedl syndrome 2
Variation info
Gene BBS2
CLNDBN Bardet-Biedl syndrome 2
Reversed 1
HGVS NC_000016.9:g.56548486A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004831.4,