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rs386833845

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833845(-;-)
Make rs386833845(-;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position144514983
GeneRECQL4
is asnp
is mentioned by
dbSNPrs386833845
ebirs386833845
HLIrs386833845
Exacrs386833845
Varsomers386833845
Maprs386833845
PheGenIrs386833845
hapmaprs386833845
1000 genomesrs386833845
hgdprs386833845
ensemblrs386833845
gopubmedrs386833845
geneviewrs386833845
scholarrs386833845
googlers386833845
pharmgkbrs386833845
gwascentralrs386833845
openSNPrs386833845
23andMers386833845
23andMe allrs386833845
SNP Nexus

SNPshotrs386833845
SNPdbers386833845
MSV3drs386833845
GWAS Ctlgrs386833845
Max Magnitude0
ClinVar
Risk rs386833845(;)
Alt rs386833845(;)
Reference rs386833845(T;T)
Significance Pathogenic
Disease Rothmund-Thomson syndrome Rapadilino syndrome Baller-Gerold syndrome
Variation info
Gene RECQL4
CLNDBN Rothmund-Thomson syndrome Rapadilino syndrome Baller-Gerold syndrome
Reversed 1
HGVS NC_000008.10:g.145740367delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000006438.5, RCV000049813.1, RCV000169785.3,


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