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rs1057519265

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057519265(A;T)
Make rs1057519265(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position125232934
GeneZNF148
is asnp
is mentioned by
dbSNPrs1057519265
dbSNP (classic)rs1057519265
ClinGenrs1057519265
ebirs1057519265
HLIrs1057519265
Exacrs1057519265
Gnomadrs1057519265
Varsomers1057519265
LitVarrs1057519265
Maprs1057519265
PheGenIrs1057519265
Biobankrs1057519265
1000 genomesrs1057519265
hgdprs1057519265
ensemblrs1057519265
geneviewrs1057519265
scholarrs1057519265
googlers1057519265
pharmgkbrs1057519265
gwascentralrs1057519265
openSNPrs1057519265
23andMers1057519265
23andMe allrs1057519265
SNPshotrs1057519265
SNPdbers1057519265
MSV3drs1057519265
GWAS Ctlgrs1057519265
Max Magnitude0
ClinVar
Risk rs1057519265(T;T)
Alt rs1057519265(T;T)
Reference Rs1057519265(A;A)
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.124951778T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000415609.1,