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rs771538008

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CT;CT) 0 common in clinvar
(I;I) 0 common genotype
Make rs771538008(-;-)
Make rs771538008(-;CT)
ReferenceGRCh38.p2 38.2/147
Chromosome8
Position144512307
GeneRECQL4
is asnp
is mentioned by
dbSNPrs771538008
dbSNP (classic)rs771538008
ClinGenrs771538008
ebirs771538008
HLIrs771538008
Exacrs771538008
Gnomadrs771538008
Varsomers771538008
LitVarrs771538008
Maprs771538008
PheGenIrs771538008
Biobankrs771538008
1000 genomesrs771538008
hgdprs771538008
ensemblrs771538008
geneviewrs771538008
scholarrs771538008
googlers771538008
pharmgkbrs771538008
gwascentralrs771538008
openSNPrs771538008
23andMers771538008
SNPshotrs771538008
SNPdbers771538008
MSV3drs771538008
GWAS Ctlgrs771538008
Max Magnitude0
ClinVar
Risk rs771538008(-;-)
Alt rs771538008(-;-)
Reference Rs771538008(CT;CT)
Significance Pathogenic
Disease Baller-Gerold syndrome
Variation info
Gene RECQL4
CLNDBN Baller-Gerold syndrome
Reversed 0
HGVS NC_000008.10:g.145737690_145737691delCT
CLNSRC
CLNACC RCV000227479.1,