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rs111033571

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033571(C;T)
Make rs111033571(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position116698130
GeneASTN2, TRIM32
is asnp
is mentioned by
dbSNPrs111033571
ebirs111033571
HLIrs111033571
Exacrs111033571
Varsomers111033571
Maprs111033571
PheGenIrs111033571
hapmaprs111033571
1000 genomesrs111033571
hgdprs111033571
ensemblrs111033571
gopubmedrs111033571
geneviewrs111033571
scholarrs111033571
googlers111033571
pharmgkbrs111033571
gwascentralrs111033571
openSNPrs111033571
23andMers111033571
23andMe allrs111033571
SNP Nexus

SNPshotrs111033571
SNPdbers111033571
MSV3drs111033571
GWAS Ctlgrs111033571
Max Magnitude0
OMIM602290
Desc
Variant0002
Relatedalso
ClinVar
Risk rs111033571(T;T)
Alt rs111033571(T;T)
Reference rs111033571(C;C)
Significance Pathogenic
Disease Bardet-Biedl syndrome 11 Bardet-Biedl syndrome
Variation info
Gene TRIM32 ASTN2
CLNDBN Bardet-Biedl syndrome 11 Bardet-Biedl syndrome
Reversed 0
HGVS NC_000009.11:g.119460409C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007776.7, RCV000199127.2,