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rs397515337

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515337(C;T)
Make rs397515337(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position243305133
GeneSDCCAG8
is asnp
is mentioned by
dbSNPrs397515337
ebirs397515337
HLIrs397515337
Exacrs397515337
Varsomers397515337
Maprs397515337
PheGenIrs397515337
hapmaprs397515337
1000 genomesrs397515337
hgdprs397515337
ensemblrs397515337
gopubmedrs397515337
geneviewrs397515337
scholarrs397515337
googlers397515337
pharmgkbrs397515337
gwascentralrs397515337
openSNPrs397515337
23andMers397515337
23andMe allrs397515337
SNP Nexus

SNPshotrs397515337
SNPdbers397515337
MSV3drs397515337
GWAS Ctlgrs397515337
Max Magnitude0
ClinVar
Risk rs397515337(T;T)
Alt rs397515337(T;T)
Reference rs397515337(C;C)
Significance Pathogenic
Disease Bardet-Biedl syndrome 16
Variation info
Gene SDCCAG8
CLNDBN Bardet-Biedl syndrome 16
Reversed 0
HGVS NC_000001.10:g.243468435C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000077.3,