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rs137853230

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853230(C;T)
Make rs137853230(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position144512033
GeneRECQL4
is asnp
is mentioned by
dbSNPrs137853230
ebirs137853230
HLIrs137853230
Exacrs137853230
Varsomers137853230
Maprs137853230
PheGenIrs137853230
hapmaprs137853230
1000 genomesrs137853230
hgdprs137853230
ensemblrs137853230
gopubmedrs137853230
geneviewrs137853230
scholarrs137853230
googlers137853230
pharmgkbrs137853230
gwascentralrs137853230
openSNPrs137853230
23andMers137853230
23andMe allrs137853230
SNP Nexus

SNPshotrs137853230
SNPdbers137853230
MSV3drs137853230
GWAS Ctlgrs137853230
Max Magnitude0
OMIM603780
Desc
Variant0010
Relatedalso
ClinVar
Risk rs137853230(T;T)
Alt rs137853230(T;T)
Reference rs137853230(C;C)
Significance Probable-Pathogenic
Disease Rapadilino syndrome
Variation info
Gene RECQL4
CLNDBN Rapadilino syndrome
Reversed 1
HGVS NC_000008.10:g.145737416G>A
CLNSRC ClinVar
CLNACC RCV000049822.1,


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