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rs1057519267

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057519267(-;T)
Make rs1057519267(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position125233755
GeneZNF148
is asnp
is mentioned by
dbSNPrs1057519267
dbSNP (old)rs1057519267
ClinGenrs1057519267
ebirs1057519267
HLIrs1057519267
Exacrs1057519267
Gnomadrs1057519267
Varsomers1057519267
Maprs1057519267
PheGenIrs1057519267
Biobankrs1057519267
1000 genomesrs1057519267
hgdprs1057519267
ensemblrs1057519267
gopubmedrs1057519267
geneviewrs1057519267
scholarrs1057519267
googlers1057519267
pharmgkbrs1057519267
gwascentralrs1057519267
openSNPrs1057519267
23andMers1057519267
23andMe allrs1057519267
SNPshotrs1057519267
SNPdbers1057519267
MSV3drs1057519267
GWAS Ctlgrs1057519267
Max Magnitude0
ClinVar
Risk rs1057519267(T;T)
Alt rs1057519267(T;T)
Reference Rs1057519267(-;-)
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.124952600dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000415583.1,