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rs1060501370

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1060501370(-;-)
Make rs1060501370(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position144516314
GeneLRRC14, RECQL4
is asnp
is mentioned by
dbSNPrs1060501370
dbSNP (old)rs1060501370
ClinGenrs1060501370
ebirs1060501370
HLIrs1060501370
Exacrs1060501370
Gnomadrs1060501370
Varsomers1060501370
Maprs1060501370
PheGenIrs1060501370
Biobankrs1060501370
1000 genomesrs1060501370
hgdprs1060501370
ensemblrs1060501370
gopubmedrs1060501370
geneviewrs1060501370
scholarrs1060501370
googlers1060501370
pharmgkbrs1060501370
gwascentralrs1060501370
openSNPrs1060501370
23andMers1060501370
23andMe allrs1060501370
SNPshotrs1060501370
SNPdbers1060501370
MSV3drs1060501370
GWAS Ctlgrs1060501370
Max Magnitude0
ClinVar
Risk rs1060501370(-;-)
Alt rs1060501370(-;-)
Reference Rs1060501370(T;T)
Significance Pathogenic
Disease Baller-Gerold syndrome
Variation info
Gene RECQL4 LRRC14
CLNDBN Baller-Gerold syndrome
Reversed 1
HGVS NC_000008.10:g.145741698delA
CLNSRC
CLNACC RCV000465867.1,