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

rs111033589

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111033589(C;C)
Make rs111033589(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position49091208
GeneDHH, LOC105369759
is asnp
is mentioned by
dbSNPrs111033589
dbSNP (classic)rs111033589
ClinGenrs111033589
ebirs111033589
HLIrs111033589
Exacrs111033589
Gnomadrs111033589
Varsomers111033589
LitVarrs111033589
Maprs111033589
PheGenIrs111033589
Biobankrs111033589
1000 genomesrs111033589
hgdprs111033589
ensemblrs111033589
geneviewrs111033589
scholarrs111033589
googlers111033589
pharmgkbrs111033589
gwascentralrs111033589
openSNPrs111033589
23andMers111033589
SNPshotrs111033589
SNPdbers111033589
MSV3drs111033589
GWAS Ctlgrs111033589
Max Magnitude0
OMIM605423
Desc
Variant0002
Relatedalso
ClinVar
Risk rs111033589(C;C)
Alt rs111033589(C;C)
Reference Rs111033589(T;T)
Significance Pathogenic
Disease 46
Variation info
Gene DHH
CLNDBN 46,XY gonadal dysgenesis, complete, dhh-related
Reversed 1
HGVS NC_000012.11:g.49484991A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005314.3,