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rs386833852

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833852(-;-)
Make rs386833852(-;A)
ReferenceGRCh38 38.1/141
Chromosome8
Position144512308
GeneRECQL4
is asnp
is mentioned by
dbSNPrs386833852
ebirs386833852
HLIrs386833852
Exacrs386833852
Varsomers386833852
Maprs386833852
PheGenIrs386833852
hapmaprs386833852
1000 genomesrs386833852
hgdprs386833852
ensemblrs386833852
gopubmedrs386833852
geneviewrs386833852
scholarrs386833852
googlers386833852
pharmgkbrs386833852
gwascentralrs386833852
openSNPrs386833852
23andMers386833852
23andMe allrs386833852
SNP Nexus

SNPshotrs386833852
SNPdbers386833852
MSV3drs386833852
GWAS Ctlgrs386833852
Max Magnitude0
ClinVar
Risk rs386833852(;)
Alt rs386833852(;)
Reference rs386833852(A;A)
Significance Probable-Pathogenic
Disease Rapadilino syndrome
Variation info
Gene RECQL4
CLNDBN Rapadilino syndrome
Reversed 1
HGVS NC_000008.10:g.145737691delT
CLNSRC ClinVar
CLNACC RCV000049820.1,


[PMID 18716613OA-icon.png] The mutation spectrum in RECQL4 diseases.