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rs863224529

From SNPedia

Orientationminus
Make rs863224529(GCA;T)
Make rs863224529(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position121828172
GeneBBS7
is asnp
is mentioned by
dbSNPrs863224529
ebirs863224529
HLIrs863224529
Exacrs863224529
Varsomers863224529
Maprs863224529
PheGenIrs863224529
hapmaprs863224529
1000 genomesrs863224529
hgdprs863224529
ensemblrs863224529
gopubmedrs863224529
geneviewrs863224529
scholarrs863224529
googlers863224529
pharmgkbrs863224529
gwascentralrs863224529
openSNPrs863224529
23andMers863224529
23andMe allrs863224529
SNP Nexus

SNPshotrs863224529
SNPdbers863224529
MSV3drs863224529
GWAS Ctlgrs863224529
Max Magnitude
ClinVar
Risk rs863224529(T;T)
Alt rs863224529(T;T)
Reference rs863224529(GCA;GCA)
Significance Pathogenic
Disease Bardet-Biedl syndrome
Variation info
Gene BBS7
CLNDBN Bardet-Biedl syndrome
Reversed 1
HGVS NC_000004.11:g.122749327_122749329delTGCinsA
CLNSRC
CLNACC RCV000198339.1,