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rs386833847

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GGAG;GGAG) 0 common in clinvar
Make rs386833847(-;-)
Make rs386833847(-;GGAG)
ReferenceGRCh38 38.1/141
Chromosome8
Position144514096
GeneRECQL4
is asnp
is mentioned by
dbSNPrs386833847
ebirs386833847
HLIrs386833847
Exacrs386833847
Varsomers386833847
Maprs386833847
PheGenIrs386833847
hapmaprs386833847
1000 genomesrs386833847
hgdprs386833847
ensemblrs386833847
gopubmedrs386833847
geneviewrs386833847
scholarrs386833847
googlers386833847
pharmgkbrs386833847
gwascentralrs386833847
openSNPrs386833847
23andMers386833847
23andMe allrs386833847
SNP Nexus

SNPshotrs386833847
SNPdbers386833847
MSV3drs386833847
GWAS Ctlgrs386833847
Max Magnitude0
ClinVar
Risk rs386833847(;)
Alt rs386833847(;)
Reference rs386833847(GGAG;GGAG)
Significance Probable-Pathogenic
Disease Rapadilino syndrome
Variation info
Gene RECQL4
CLNDBN Rapadilino syndrome
Reversed 1
HGVS NC_000008.10:g.145739480_145739483delCTCC
CLNSRC ClinVar
CLNACC RCV000049815.1,


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