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rs386833853

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833853(A;T)
Make rs386833853(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position144512166
GeneRECQL4
is asnp
is mentioned by
dbSNPrs386833853
ebirs386833853
HLIrs386833853
Exacrs386833853
Varsomers386833853
Maprs386833853
PheGenIrs386833853
hapmaprs386833853
1000 genomesrs386833853
hgdprs386833853
ensemblrs386833853
gopubmedrs386833853
geneviewrs386833853
scholarrs386833853
googlers386833853
pharmgkbrs386833853
gwascentralrs386833853
openSNPrs386833853
23andMers386833853
23andMe allrs386833853
SNP Nexus

SNPshotrs386833853
SNPdbers386833853
MSV3drs386833853
GWAS Ctlgrs386833853
Max Magnitude0
ClinVar
Risk rs386833853(C,T;C,T)
Alt rs386833853(C,T;C,T)
Reference rs386833853(A;A)
Significance Probable-Pathogenic
Disease Rapadilino syndrome
Variation info
Gene RECQL4
CLNDBN Rapadilino syndrome
Reversed 1
HGVS NC_000008.10:g.145737549T>A
CLNSRC ClinVar
CLNACC RCV000049821.1,


[PMID 12952869] Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases.