Have questions? Visit https://www.reddit.com/r/SNPedia

rs267607031

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267607031(A;T)
Make rs267607031(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position243304716
GeneSDCCAG8
is asnp
is mentioned by
dbSNPrs267607031
dbSNP (classic)rs267607031
ClinGenrs267607031
ebirs267607031
HLIrs267607031
Exacrs267607031
Gnomadrs267607031
Varsomers267607031
LitVarrs267607031
Maprs267607031
PheGenIrs267607031
Biobankrs267607031
1000 genomesrs267607031
hgdprs267607031
ensemblrs267607031
geneviewrs267607031
scholarrs267607031
googlers267607031
pharmgkbrs267607031
gwascentralrs267607031
openSNPrs267607031
23andMers267607031
SNPshotrs267607031
SNPdbers267607031
MSV3drs267607031
GWAS Ctlgrs267607031
Max Magnitude0
ClinVar
Risk rs267607031(T;T)
Alt rs267607031(T;T)
Reference Rs267607031(A;A)
Significance Pathogenic
Disease Bardet-Biedl syndrome 16
Variation info
Gene SDCCAG8
CLNDBN Bardet-Biedl syndrome 16
Reversed 0
HGVS NC_000001.10:g.243468018A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000078.4,