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rs386833851

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833851(C;T)
Make rs386833851(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position144513126
GeneRECQL4
is asnp
is mentioned by
dbSNPrs386833851
ClinGenrs386833851
ebirs386833851
HLIrs386833851
Exacrs386833851
Varsomers386833851
Maprs386833851
PheGenIrs386833851
hapmaprs386833851
1000 genomesrs386833851
hgdprs386833851
ensemblrs386833851
gopubmedrs386833851
geneviewrs386833851
scholarrs386833851
googlers386833851
pharmgkbrs386833851
gwascentralrs386833851
openSNPrs386833851
23andMers386833851
23andMe allrs386833851
SNP Nexus

SNPshotrs386833851
SNPdbers386833851
MSV3drs386833851
GWAS Ctlgrs386833851
Max Magnitude0
ClinVar
Risk rs386833851(T;T)
Alt rs386833851(T;T)
Reference Rs386833851(C;C)
Significance Pathogenic
Disease Rapadilino syndrome not provided Rothmund-Thomson syndrome
Variation info
Gene RECQL4
CLNDBN Rapadilino syndrome not provided Rothmund-Thomson syndrome
Reversed 1
HGVS NC_000008.10:g.145738509G>A
CLNSRC HGMD
CLNACC RCV000049819.1, RCV000080890.3, RCV000174890.1,


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