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

rs1057518776

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057518776(A;A)
Make rs1057518776(A;T)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position101986027
GeneDYNC1H1
is asnp
is mentioned by
dbSNPrs1057518776
dbSNP (old)rs1057518776
ClinGenrs1057518776
ebirs1057518776
HLIrs1057518776
Exacrs1057518776
Gnomadrs1057518776
Varsomers1057518776
Maprs1057518776
PheGenIrs1057518776
Biobankrs1057518776
1000 genomesrs1057518776
hgdprs1057518776
ensemblrs1057518776
gopubmedrs1057518776
geneviewrs1057518776
scholarrs1057518776
googlers1057518776
pharmgkbrs1057518776
gwascentralrs1057518776
openSNPrs1057518776
23andMers1057518776
23andMe allrs1057518776
SNPshotrs1057518776
SNPdbers1057518776
MSV3drs1057518776
GWAS Ctlgrs1057518776
Max Magnitude0
ClinVar
Risk rs1057518776(A;A)
Alt rs1057518776(A;A)
Reference Rs1057518776(T;T)
Significance Probable-Pathogenic
Disease Global developmental delay Motor delay Muscular hypotonia Polymicrogyria
Variation info
Gene DYNC1H1
CLNDBN Global developmental delay Motor delay Muscular hypotonia Polymicrogyria
Reversed 0
HGVS NC_000014.8:g.102452364T>A
CLNSRC
CLNACC RCV000414994.1,