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rs1060501383

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GCCCCT;GCCCCT) 0 common in clinvar
Make rs1060501383(CCCCC;CCCCC)
Make rs1060501383(CCCCC;GCCCCT)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position144514983
GeneRECQL4
is asnp
is mentioned by
dbSNPrs1060501383
dbSNP (old)rs1060501383
ClinGenrs1060501383
ebirs1060501383
HLIrs1060501383
Exacrs1060501383
Gnomadrs1060501383
Varsomers1060501383
Maprs1060501383
PheGenIrs1060501383
Biobankrs1060501383
1000 genomesrs1060501383
hgdprs1060501383
ensemblrs1060501383
gopubmedrs1060501383
geneviewrs1060501383
scholarrs1060501383
googlers1060501383
pharmgkbrs1060501383
gwascentralrs1060501383
openSNPrs1060501383
23andMers1060501383
23andMe allrs1060501383
SNPshotrs1060501383
SNPdbers1060501383
MSV3drs1060501383
GWAS Ctlgrs1060501383
Max Magnitude0
ClinVar
Risk rs1060501383(CCCCC;CCCCC)
Alt rs1060501383(CCCCC;CCCCC)
Reference Rs1060501383(GCCCCT;GCCCCT)
Significance Pathogenic
Disease Baller-Gerold syndrome not provided
Variation info
Gene RECQL4
CLNDBN Baller-Gerold syndrome not provided
Reversed 1
HGVS NC_000008.10:g.145740367_145740372delAGGGGCinsGGGGG
CLNSRC
CLNACC RCV000462359.1, RCV000478302.1,