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rs147030232

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs147030232(A;A)
Make rs147030232(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position56501014
GeneBBS2
is asnp
is mentioned by
dbSNPrs147030232
dbSNP (old)rs147030232
ClinGenrs147030232
ebirs147030232
HLIrs147030232
Exacrs147030232
Gnomadrs147030232
Varsomers147030232
LitVarrs147030232
Maprs147030232
PheGenIrs147030232
Biobankrs147030232
1000 genomesrs147030232
hgdprs147030232
ensemblrs147030232
gopubmedrs147030232
geneviewrs147030232
scholarrs147030232
googlers147030232
pharmgkbrs147030232
gwascentralrs147030232
openSNPrs147030232
23andMers147030232
23andMe allrs147030232
SNPshotrs147030232
SNPdbers147030232
MSV3drs147030232
GWAS Ctlgrs147030232
Max Magnitude0
ClinVar
Risk rs147030232(A;A) rs147030232(C;C)
Alt rs147030232(A;A) rs147030232(C;C)
Reference Rs147030232(G;G)
Significance Probable-Pathogenic
Disease Bardet-Biedl syndrome 2
Variation info
Gene BBS2
CLNDBN Bardet-Biedl syndrome 2
Reversed 0
HGVS NC_000016.9:g.56534926G>A
CLNSRC
CLNACC RCV000411465.1,