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rs1060501384

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060501384(-;-)
Make rs1060501384(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position144516104
GeneLRRC14, RECQL4
is asnp
is mentioned by
dbSNPrs1060501384
dbSNP (classic)rs1060501384
ClinGenrs1060501384
ebirs1060501384
HLIrs1060501384
Exacrs1060501384
Gnomadrs1060501384
Varsomers1060501384
LitVarrs1060501384
Maprs1060501384
PheGenIrs1060501384
Biobankrs1060501384
1000 genomesrs1060501384
hgdprs1060501384
ensemblrs1060501384
geneviewrs1060501384
scholarrs1060501384
googlers1060501384
pharmgkbrs1060501384
gwascentralrs1060501384
openSNPrs1060501384
23andMers1060501384
23andMe allrs1060501384
SNPshotrs1060501384
SNPdbers1060501384
MSV3drs1060501384
GWAS Ctlgrs1060501384
Max Magnitude0
ClinVar
Risk rs1060501384(-;-)
Alt rs1060501384(-;-)
Reference Rs1060501384(C;C)
Significance Pathogenic
Disease Baller-Gerold syndrome
Variation info
Gene RECQL4 LRRC14
CLNDBN Baller-Gerold syndrome
Reversed 1
HGVS NC_000008.10:g.145741488delG
CLNSRC
CLNACC RCV000458104.1,