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rs878854645

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs878854645(-;-)
Make rs878854645(-;AA)
Make rs878854645(AA;AA)
ReferenceGRCh38.p2 38.2/147
Chromosome8
Position144513300
GeneRECQL4
is asnp
is mentioned by
dbSNPrs878854645
ebirs878854645
HLIrs878854645
Exacrs878854645
Varsomers878854645
Maprs878854645
PheGenIrs878854645
hapmaprs878854645
1000 genomesrs878854645
hgdprs878854645
ensemblrs878854645
gopubmedrs878854645
geneviewrs878854645
scholarrs878854645
googlers878854645
pharmgkbrs878854645
gwascentralrs878854645
openSNPrs878854645
23andMers878854645
23andMe allrs878854645
SNP Nexus

SNPshotrs878854645
SNPdbers878854645
MSV3drs878854645
GWAS Ctlgrs878854645
Max Magnitude0
ClinVar
Risk rs878854645(AA;AA)
Alt rs878854645(AA;AA)
Reference rs878854645(;)
Significance Pathogenic
Disease Baller-Gerold syndrome
Variation info
Gene RECQL4
CLNDBN Baller-Gerold syndrome
Reversed 1
HGVS NC_000008.10:g.145738684_145738685dupTT
CLNSRC
CLNACC RCV000233962.1,