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rs1057517193

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517193(-;-)
Make rs1057517193(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position122742974
GeneBBS12
is asnp
is mentioned by
dbSNPrs1057517193
dbSNP (old)rs1057517193
ClinGenrs1057517193
ebirs1057517193
HLIrs1057517193
Exacrs1057517193
Gnomadrs1057517193
Varsomers1057517193
Maprs1057517193
PheGenIrs1057517193
Biobankrs1057517193
1000 genomesrs1057517193
hgdprs1057517193
ensemblrs1057517193
gopubmedrs1057517193
geneviewrs1057517193
scholarrs1057517193
googlers1057517193
pharmgkbrs1057517193
gwascentralrs1057517193
openSNPrs1057517193
23andMers1057517193
23andMe allrs1057517193
SNPshotrs1057517193
SNPdbers1057517193
MSV3drs1057517193
GWAS Ctlgrs1057517193
Max Magnitude0
ClinVar
Risk rs1057517193(-;-)
Alt rs1057517193(-;-)
Reference Rs1057517193(G;G)
Significance Probable-Pathogenic
Disease Bardet-Biedl syndrome 12
Variation info
Gene BBS12
CLNDBN Bardet-Biedl syndrome 12
Reversed 0
HGVS NC_000004.11:g.123664129delG
CLNSRC
CLNACC RCV000412053.1,