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rs370242930

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs370242930(C;T)
Make rs370242930(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome18
Position32065917
GeneRNF125
is asnp
is mentioned by
dbSNPrs370242930
dbSNP (classic)rs370242930
ClinGenrs370242930
ebirs370242930
HLIrs370242930
Exacrs370242930
Gnomadrs370242930
Varsomers370242930
LitVarrs370242930
Maprs370242930
PheGenIrs370242930
Biobankrs370242930
1000 genomesrs370242930
hgdprs370242930
ensemblrs370242930
geneviewrs370242930
scholarrs370242930
googlers370242930
pharmgkbrs370242930
gwascentralrs370242930
openSNPrs370242930
23andMers370242930
SNPshotrs370242930
SNPdbers370242930
MSV3drs370242930
GWAS Ctlgrs370242930
Max Magnitude0
ClinVar
Risk rs370242930(T;T)
Alt rs370242930(T;T)
Reference Rs370242930(C;C)
Significance Pathogenic
Disease Tenorio syndrome
Variation info
Gene RNF125
CLNDBN Tenorio syndrome
Reversed 0
HGVS NC_000018.9:g.29645880C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000162243.5,