Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs1060499583

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1060499583(G;G)
Make rs1060499583(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position6587518
GeneCHD4
is asnp
is mentioned by
dbSNPrs1060499583
dbSNP (old)rs1060499583
ClinGenrs1060499583
ebirs1060499583
HLIrs1060499583
Exacrs1060499583
Gnomadrs1060499583
Varsomers1060499583
Maprs1060499583
PheGenIrs1060499583
Biobankrs1060499583
1000 genomesrs1060499583
hgdprs1060499583
ensemblrs1060499583
gopubmedrs1060499583
geneviewrs1060499583
scholarrs1060499583
googlers1060499583
pharmgkbrs1060499583
gwascentralrs1060499583
openSNPrs1060499583
23andMers1060499583
23andMe allrs1060499583
SNPshotrs1060499583
SNPdbers1060499583
MSV3drs1060499583
GWAS Ctlgrs1060499583
Max Magnitude0
ClinVar
Risk rs1060499583(G;G)
Alt rs1060499583(G;G)
Reference Rs1060499583(T;T)
Significance Probable-Pathogenic
Disease Sifrim-Hitz-Weiss syndrome
Variation info
Gene CHD4
CLNDBN Sifrim-Hitz-Weiss syndrome
Reversed 1
HGVS NC_000012.11:g.6696684A>C
CLNSRC
CLNACC RCV000477959.1,