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rs797046124

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797046124(-;GCCA)
Make rs797046124(GCCA;GCCA)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position45953872
GeneZNF335
is asnp
is mentioned by
dbSNPrs797046124
dbSNP (old)rs797046124
ClinGenrs797046124
ebirs797046124
HLIrs797046124
Exacrs797046124
Gnomadrs797046124
Varsomers797046124
Maprs797046124
PheGenIrs797046124
Biobankrs797046124
1000 genomesrs797046124
hgdprs797046124
ensemblrs797046124
gopubmedrs797046124
geneviewrs797046124
scholarrs797046124
googlers797046124
pharmgkbrs797046124
gwascentralrs797046124
openSNPrs797046124
23andMers797046124
23andMe allrs797046124
SNP Nexus

SNPshotrs797046124
SNPdbers797046124
MSV3drs797046124
GWAS Ctlgrs797046124
Max Magnitude0
ClinVar
Risk rs797046124(GCCA;GCCA)
Alt rs797046124(GCCA;GCCA)
Reference Rs797046124(-;-)
Significance Probable-Pathogenic
Disease Primary autosomal recessive microcephaly 10
Variation info
Gene ZNF335
CLNDBN Primary autosomal recessive microcephaly 10
Reversed 1
HGVS NC_000020.10:g.44582512_44582515dupTGGC
CLNSRC
CLNACC RCV000193192.1,