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rs878854644

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs878854644(G;T)
Make rs878854644(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome8
Position144514251
GeneRECQL4
is asnp
is mentioned by
dbSNPrs878854644
ebirs878854644
HLIrs878854644
Exacrs878854644
Varsomers878854644
Maprs878854644
PheGenIrs878854644
hapmaprs878854644
1000 genomesrs878854644
hgdprs878854644
ensemblrs878854644
gopubmedrs878854644
geneviewrs878854644
scholarrs878854644
googlers878854644
pharmgkbrs878854644
gwascentralrs878854644
openSNPrs878854644
23andMers878854644
23andMe allrs878854644
SNP Nexus

SNPshotrs878854644
SNPdbers878854644
MSV3drs878854644
GWAS Ctlgrs878854644
Max Magnitude0
ClinVar
Risk rs878854644(T;T)
Alt rs878854644(T;T)
Reference rs878854644(G;G)
Significance Pathogenic
Disease Baller-Gerold syndrome
Variation info
Gene RECQL4
CLNDBN Baller-Gerold syndrome
Reversed 1
HGVS NC_000008.10:g.145739635C>A
CLNSRC
CLNACC RCV000234369.1,