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rs1060499557

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TCAT;TCAT) 0 common in clinvar
Make rs1060499557(-;-)
Make rs1060499557(-;TCAT)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position24883255
GeneCENPJ, RNF17
is asnp
is mentioned by
dbSNPrs1060499557
dbSNP (old)rs1060499557
ClinGenrs1060499557
ebirs1060499557
HLIrs1060499557
Exacrs1060499557
Gnomadrs1060499557
Varsomers1060499557
Maprs1060499557
PheGenIrs1060499557
Biobankrs1060499557
1000 genomesrs1060499557
hgdprs1060499557
ensemblrs1060499557
gopubmedrs1060499557
geneviewrs1060499557
scholarrs1060499557
googlers1060499557
pharmgkbrs1060499557
gwascentralrs1060499557
openSNPrs1060499557
23andMers1060499557
23andMe allrs1060499557
SNPshotrs1060499557
SNPdbers1060499557
MSV3drs1060499557
GWAS Ctlgrs1060499557
Max Magnitude0
ClinVar
Risk rs1060499557(-;-)
Alt rs1060499557(-;-)
Reference Rs1060499557(TCAT;TCAT)
Significance Pathogenic
Disease Seckel syndrome 5
Variation info
Gene CENPJ
CLNDBN Seckel syndrome 5
Reversed 1
HGVS NC_000013.10:g.25457393_25457396delATGA
CLNSRC
CLNACC RCV000470349.1,