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rs386833848

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833848(C;C)
Make rs386833848(C;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position144514076
GeneRECQL4
is asnp
is mentioned by
dbSNPrs386833848
ebirs386833848
HLIrs386833848
Exacrs386833848
Varsomers386833848
Maprs386833848
PheGenIrs386833848
hapmaprs386833848
1000 genomesrs386833848
hgdprs386833848
ensemblrs386833848
gopubmedrs386833848
geneviewrs386833848
scholarrs386833848
googlers386833848
pharmgkbrs386833848
gwascentralrs386833848
openSNPrs386833848
23andMers386833848
23andMe allrs386833848
SNP Nexus

SNPshotrs386833848
SNPdbers386833848
MSV3drs386833848
GWAS Ctlgrs386833848
Max Magnitude0
ClinVar
Risk rs386833848(C;C)
Alt rs386833848(C;C)
Reference rs386833848(T;T)
Significance Probable-Pathogenic
Disease Rapadilino syndrome
Variation info
Gene RECQL4
CLNDBN Rapadilino syndrome
Reversed 1
HGVS NC_000008.10:g.145739460A>G
CLNSRC ClinVar
CLNACC RCV000049816.1,


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