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rs386833850

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833850(G;G)
Make rs386833850(G;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position144513680
GeneRECQL4
is asnp
is mentioned by
dbSNPrs386833850
ebirs386833850
HLIrs386833850
Exacrs386833850
Varsomers386833850
Maprs386833850
PheGenIrs386833850
hapmaprs386833850
1000 genomesrs386833850
hgdprs386833850
ensemblrs386833850
gopubmedrs386833850
geneviewrs386833850
scholarrs386833850
googlers386833850
pharmgkbrs386833850
gwascentralrs386833850
openSNPrs386833850
23andMers386833850
23andMe allrs386833850
SNP Nexus

SNPshotrs386833850
SNPdbers386833850
MSV3drs386833850
GWAS Ctlgrs386833850
Max Magnitude0
ClinVar
Risk rs386833850(G;G)
Alt rs386833850(G;G)
Reference rs386833850(T;T)
Significance Probable-Pathogenic
Disease Rapadilino syndrome
Variation info
Gene RECQL4
CLNDBN Rapadilino syndrome
Reversed 1
HGVS NC_000008.10:g.145739064A>C
CLNSRC ClinVar
CLNACC RCV000049818.1,


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