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rs1057519268

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057519268(-;C)
Make rs1057519268(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position125233144
GeneZNF148
is asnp
is mentioned by
dbSNPrs1057519268
dbSNP (classic)rs1057519268
ClinGenrs1057519268
ebirs1057519268
HLIrs1057519268
Exacrs1057519268
Gnomadrs1057519268
Varsomers1057519268
LitVarrs1057519268
Maprs1057519268
PheGenIrs1057519268
Biobankrs1057519268
1000 genomesrs1057519268
hgdprs1057519268
ensemblrs1057519268
geneviewrs1057519268
scholarrs1057519268
googlers1057519268
pharmgkbrs1057519268
gwascentralrs1057519268
openSNPrs1057519268
23andMers1057519268
23andMe allrs1057519268
SNPshotrs1057519268
SNPdbers1057519268
MSV3drs1057519268
GWAS Ctlgrs1057519268
Max Magnitude0
ClinVar
Risk rs1057519268(C;C)
Alt rs1057519268(C;C)
Reference Rs1057519268(-;-)
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.124951988_124951989insG
CLNSRC OMIM Allelic Variant
CLNACC RCV000415613.1,