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rs137853229

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853229(C;T)
Make rs137853229(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position144513412
GeneRECQL4
is asnp
is mentioned by
dbSNPrs137853229
ebirs137853229
HLIrs137853229
Exacrs137853229
Varsomers137853229
Maprs137853229
PheGenIrs137853229
hapmaprs137853229
1000 genomesrs137853229
hgdprs137853229
ensemblrs137853229
gopubmedrs137853229
geneviewrs137853229
scholarrs137853229
googlers137853229
pharmgkbrs137853229
gwascentralrs137853229
openSNPrs137853229
23andMers137853229
23andMe allrs137853229
SNP Nexus

SNPshotrs137853229
SNPdbers137853229
MSV3drs137853229
GWAS Ctlgrs137853229
Max Magnitude0
OMIM603780
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137853229(T;T)
Alt rs137853229(T;T)
Reference rs137853229(C;C)
Significance Pathogenic
Disease Rothmund-Thomson syndrome
Variation info
Gene RECQL4
CLNDBN Rothmund-Thomson syndrome
Reversed 1
HGVS NC_000008.10:g.145738796G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006435.4,