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rs386833844

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833844(C;T)
Make rs386833844(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position144515236
GeneRECQL4
is asnp
is mentioned by
dbSNPrs386833844
ebirs386833844
HLIrs386833844
Exacrs386833844
Varsomers386833844
Maprs386833844
PheGenIrs386833844
hapmaprs386833844
1000 genomesrs386833844
hgdprs386833844
ensemblrs386833844
gopubmedrs386833844
geneviewrs386833844
scholarrs386833844
googlers386833844
pharmgkbrs386833844
gwascentralrs386833844
openSNPrs386833844
23andMers386833844
23andMe allrs386833844
SNP Nexus

SNPshotrs386833844
SNPdbers386833844
MSV3drs386833844
GWAS Ctlgrs386833844
Max Magnitude0
ClinVar
Risk rs386833844(T;T)
Alt rs386833844(T;T)
Reference rs386833844(C;C)
Significance Probable-Pathogenic
Disease Rapadilino syndrome Baller-Gerold syndrome
Variation info
Gene RECQL4
CLNDBN Rapadilino syndrome Baller-Gerold syndrome
Reversed 1
HGVS NC_000008.10:g.145740620G>A
CLNSRC ClinVar
CLNACC RCV000049812.1, RCV000228610.1,


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