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rs1057519027

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057519027(A;C)
Make rs1057519027(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position121828271
GeneBBS7
is asnp
is mentioned by
dbSNPrs1057519027
dbSNP (old)rs1057519027
ClinGenrs1057519027
ebirs1057519027
HLIrs1057519027
Exacrs1057519027
Gnomadrs1057519027
Varsomers1057519027
Maprs1057519027
PheGenIrs1057519027
Biobankrs1057519027
1000 genomesrs1057519027
hgdprs1057519027
ensemblrs1057519027
gopubmedrs1057519027
geneviewrs1057519027
scholarrs1057519027
googlers1057519027
pharmgkbrs1057519027
gwascentralrs1057519027
openSNPrs1057519027
23andMers1057519027
23andMe allrs1057519027
SNPshotrs1057519027
SNPdbers1057519027
MSV3drs1057519027
GWAS Ctlgrs1057519027
Max Magnitude0
ClinVar
Risk rs1057519027(C;C)
Alt rs1057519027(C;C)
Reference Rs1057519027(A;A)
Significance Probable-Pathogenic
Disease Bardet-Biedl syndrome 7
Variation info
Gene BBS7
CLNDBN Bardet-Biedl syndrome 7
Reversed 1
HGVS NC_000004.11:g.122749426T>G
CLNSRC
CLNACC RCV000416357.1,