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rs373764886

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs373764886(C;T)
Make rs373764886(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome18
Position32045716
GeneRNF125
is asnp
is mentioned by
dbSNPrs373764886
dbSNP (classic)rs373764886
ClinGenrs373764886
ebirs373764886
HLIrs373764886
Exacrs373764886
Gnomadrs373764886
Varsomers373764886
LitVarrs373764886
Maprs373764886
PheGenIrs373764886
Biobankrs373764886
1000 genomesrs373764886
hgdprs373764886
ensemblrs373764886
geneviewrs373764886
scholarrs373764886
googlers373764886
pharmgkbrs373764886
gwascentralrs373764886
openSNPrs373764886
23andMers373764886
SNPshotrs373764886
SNPdbers373764886
MSV3drs373764886
GWAS Ctlgrs373764886
Max Magnitude0
ClinVar
Risk rs373764886(A;A) rs373764886(T;T)
Alt rs373764886(A;A) rs373764886(T;T)
Reference Rs373764886(C;C)
Significance Pathogenic
Disease Tenorio syndrome
Variation info
Gene RNF125
CLNDBN Tenorio syndrome
Reversed 0
HGVS NC_000018.9:g.29625679C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000162242.5,