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rs1057519266

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057519266(-;A)
Make rs1057519266(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position125233142
GeneZNF148
is asnp
is mentioned by
dbSNPrs1057519266
dbSNP (classic)rs1057519266
ClinGenrs1057519266
ebirs1057519266
HLIrs1057519266
Exacrs1057519266
Gnomadrs1057519266
Varsomers1057519266
LitVarrs1057519266
Maprs1057519266
PheGenIrs1057519266
Biobankrs1057519266
1000 genomesrs1057519266
hgdprs1057519266
ensemblrs1057519266
geneviewrs1057519266
scholarrs1057519266
googlers1057519266
pharmgkbrs1057519266
gwascentralrs1057519266
openSNPrs1057519266
23andMers1057519266
23andMe allrs1057519266
SNPshotrs1057519266
SNPdbers1057519266
MSV3drs1057519266
GWAS Ctlgrs1057519266
Max Magnitude0
ClinVar
Risk rs1057519266(A;A)
Alt rs1057519266(A;A)
Reference Rs1057519266(-;-)
Significance Pathogenic
Disease Global developmental delay
Variation info
Gene ZNF148
CLNDBN Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
Reversed 1
HGVS NC_000003.11:g.124951987dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000415539.1,