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rs1057518961

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518961(C;T)
Make rs1057518961(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position102012450
GeneDYNC1H1
is asnp
is mentioned by
dbSNPrs1057518961
dbSNP (old)rs1057518961
ClinGenrs1057518961
ebirs1057518961
HLIrs1057518961
Exacrs1057518961
Gnomadrs1057518961
Varsomers1057518961
Maprs1057518961
PheGenIrs1057518961
Biobankrs1057518961
1000 genomesrs1057518961
hgdprs1057518961
ensemblrs1057518961
gopubmedrs1057518961
geneviewrs1057518961
scholarrs1057518961
googlers1057518961
pharmgkbrs1057518961
gwascentralrs1057518961
openSNPrs1057518961
23andMers1057518961
23andMe allrs1057518961
SNPshotrs1057518961
SNPdbers1057518961
MSV3drs1057518961
GWAS Ctlgrs1057518961
Max Magnitude0
ClinVar
Risk rs1057518961(T;T)
Alt rs1057518961(T;T)
Reference Rs1057518961(C;C)
Significance Probable-Pathogenic
Disease Delayed gross motor development Delayed speech and language development Global developmental delay Microcephaly Seizures
Variation info
Gene DYNC1H1
CLNDBN Delayed gross motor development Delayed speech and language development Global developmental delay Microcephaly Seizures
Reversed 0
HGVS NC_000014.8:g.102478787C>T
CLNSRC
CLNACC RCV000414777.1,