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rs672601379

From SNPedia

Orientationminus
Geno Mag Summary
(TA;TA) 0 common in clinvar
Make rs672601379(C;C)
Make rs672601379(C;TA)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position121828192
GeneBBS7
is asnp
is mentioned by
dbSNPrs672601379
ebirs672601379
HLIrs672601379
Exacrs672601379
Varsomers672601379
Maprs672601379
PheGenIrs672601379
hapmaprs672601379
1000 genomesrs672601379
hgdprs672601379
ensemblrs672601379
gopubmedrs672601379
geneviewrs672601379
scholarrs672601379
googlers672601379
pharmgkbrs672601379
gwascentralrs672601379
openSNPrs672601379
23andMers672601379
23andMe allrs672601379
SNP Nexus

SNPshotrs672601379
SNPdbers672601379
MSV3drs672601379
GWAS Ctlgrs672601379
Max Magnitude0
ClinVar
Risk rs672601379(C;C)
Alt rs672601379(C;C)
Reference rs672601379(TA;TA)
Significance Pathogenic
Disease Bardet-Biedl syndrome 7
Variation info
Gene BBS7
CLNDBN Bardet-Biedl syndrome 7
Reversed 1
HGVS NC_000004.11:g.122749347_122749348delTAinsG
CLNSRC
CLNACC RCV000149506.1,