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rs1085307090

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Chromosome8
Position144515325
GeneRECQL4
is asnp
is mentioned by
dbSNPrs1085307090
dbSNP (old)rs1085307090
ClinGenrs1085307090
ebirs1085307090
HLIrs1085307090
Exacrs1085307090
Gnomadrs1085307090
Varsomers1085307090
Maprs1085307090
PheGenIrs1085307090
Biobankrs1085307090
1000 genomesrs1085307090
hgdprs1085307090
ensemblrs1085307090
gopubmedrs1085307090
geneviewrs1085307090
scholarrs1085307090
googlers1085307090
pharmgkbrs1085307090
gwascentralrs1085307090
openSNPrs1085307090
23andMers1085307090
23andMe allrs1085307090
SNPshotrs1085307090
SNPdbers1085307090
MSV3drs1085307090
GWAS Ctlgrs1085307090
Max Magnitude0
ClinVar
Risk rs1085307090(T;T)
Alt rs1085307090(T;T)
Reference Rs1085307090(G;G)
Significance Probable-Pathogenic
Disease Baller-Gerold syndrome Rapadilino syndrome Rothmund-Thomson syndrome
Variation info
Gene RECQL4
CLNDBN Baller-Gerold syndrome Rapadilino syndrome Rothmund-Thomson syndrome
Reversed 1
HGVS NC_000008.10:g.145740709C>A
CLNSRC
CLNACC RCV000490255.1,