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rs1060501353

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GGTA;GGTA) 0 common in clinvar
Make rs1060501353(-;-)
Make rs1060501353(-;GGTA)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position144515985
GeneLRRC14, RECQL4
is asnp
is mentioned by
dbSNPrs1060501353
dbSNP (old)rs1060501353
ClinGenrs1060501353
ebirs1060501353
HLIrs1060501353
Exacrs1060501353
Gnomadrs1060501353
Varsomers1060501353
LitVarrs1060501353
Maprs1060501353
PheGenIrs1060501353
Biobankrs1060501353
1000 genomesrs1060501353
hgdprs1060501353
ensemblrs1060501353
gopubmedrs1060501353
geneviewrs1060501353
scholarrs1060501353
googlers1060501353
pharmgkbrs1060501353
gwascentralrs1060501353
openSNPrs1060501353
23andMers1060501353
23andMe allrs1060501353
SNPshotrs1060501353
SNPdbers1060501353
MSV3drs1060501353
GWAS Ctlgrs1060501353
Max Magnitude0
ClinVar
Risk rs1060501353(-;-)
Alt rs1060501353(-;-)
Reference Rs1060501353(GGTA;GGTA)
Significance Pathogenic
Disease Baller-Gerold syndrome
Variation info
Gene LRRC14 RECQL4
CLNDBN Baller-Gerold syndrome
Reversed 1
HGVS NC_000008.10:g.145741369_145741372delTACC
CLNSRC
CLNACC RCV000468125.1,