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rs1057517038

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GT;GT) 0 common in clinvar
Make rs1057517038(-;-)
Make rs1057517038(-;GT)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position76347770
GeneBBS10
is asnp
is mentioned by
dbSNPrs1057517038
dbSNP (old)rs1057517038
ClinGenrs1057517038
ebirs1057517038
HLIrs1057517038
Exacrs1057517038
Gnomadrs1057517038
Varsomers1057517038
Maprs1057517038
PheGenIrs1057517038
Biobankrs1057517038
1000 genomesrs1057517038
hgdprs1057517038
ensemblrs1057517038
gopubmedrs1057517038
geneviewrs1057517038
scholarrs1057517038
googlers1057517038
pharmgkbrs1057517038
gwascentralrs1057517038
openSNPrs1057517038
23andMers1057517038
23andMe allrs1057517038
SNPshotrs1057517038
SNPdbers1057517038
MSV3drs1057517038
GWAS Ctlgrs1057517038
Max Magnitude0
ClinVar
Risk rs1057517038(-;-)
Alt rs1057517038(-;-)
Reference Rs1057517038(GT;GT)
Significance Probable-Pathogenic
Disease Bardet-Biedl syndrome 10
Variation info
Gene BBS10
CLNDBN Bardet-Biedl syndrome 10
Reversed 1
HGVS NC_000012.11:g.76741550_76741551delAC
CLNSRC
CLNACC RCV000410999.1,