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rs386833849

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833849(A;A)
Make rs386833849(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position144513713
GeneRECQL4
is asnp
is mentioned by
dbSNPrs386833849
ebirs386833849
HLIrs386833849
Exacrs386833849
Varsomers386833849
Maprs386833849
PheGenIrs386833849
hapmaprs386833849
1000 genomesrs386833849
hgdprs386833849
ensemblrs386833849
gopubmedrs386833849
geneviewrs386833849
scholarrs386833849
googlers386833849
pharmgkbrs386833849
gwascentralrs386833849
openSNPrs386833849
23andMers386833849
23andMe allrs386833849
SNP Nexus

SNPshotrs386833849
SNPdbers386833849
MSV3drs386833849
GWAS Ctlgrs386833849
Max Magnitude0
ClinVar
Risk rs386833849(A;A)
Alt rs386833849(A;A)
Reference rs386833849(G;G)
Significance Pathogenic
Disease Rothmund-Thomson syndrome Rapadilino syndrome
Variation info
Gene RECQL4
CLNDBN Rothmund-Thomson syndrome Rapadilino syndrome
Reversed 1
HGVS NC_000008.10:g.145739097C>A; NC_000008.10:g.145739097C>G; NC_000008.10:g.145739097C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006437.3, RCV000006441.3, RCV000049817.1,


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