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rs869025207

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869025207(C;G)
Make rs869025207(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome4
Position121847492
GeneBBS7
is asnp
is mentioned by
dbSNPrs869025207
ebirs869025207
HLIrs869025207
Exacrs869025207
Varsomers869025207
Maprs869025207
PheGenIrs869025207
hapmaprs869025207
1000 genomesrs869025207
hgdprs869025207
ensemblrs869025207
gopubmedrs869025207
geneviewrs869025207
scholarrs869025207
googlers869025207
pharmgkbrs869025207
gwascentralrs869025207
openSNPrs869025207
23andMers869025207
23andMe allrs869025207
SNP Nexus

SNPshotrs869025207
SNPdbers869025207
MSV3drs869025207
GWAS Ctlgrs869025207
Max Magnitude0
ClinVar
Risk rs869025207(G;G)
Alt rs869025207(G;G)
Reference rs869025207(C;C)
Significance Pathogenic
Disease Bardet-Biedl syndrome 7
Variation info
Gene BBS7
CLNDBN Bardet-Biedl syndrome 7
Reversed 1
HGVS NC_000004.11:g.122768647G>C
CLNSRC
CLNACC RCV000207525.1,