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rs483353070

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs483353070(C;T)
Make rs483353070(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position114339370
GeneZBTB20
is asnp
is mentioned by
dbSNPrs483353070
dbSNP (classic)rs483353070
ClinGenrs483353070
ebirs483353070
HLIrs483353070
Exacrs483353070
Gnomadrs483353070
Varsomers483353070
LitVarrs483353070
Maprs483353070
PheGenIrs483353070
Biobankrs483353070
1000 genomesrs483353070
hgdprs483353070
ensemblrs483353070
geneviewrs483353070
scholarrs483353070
googlers483353070
pharmgkbrs483353070
gwascentralrs483353070
openSNPrs483353070
23andMers483353070
SNPshotrs483353070
SNPdbers483353070
MSV3drs483353070
GWAS Ctlgrs483353070
Max Magnitude0
ClinVar
Risk rs483353070(T;T)
Alt rs483353070(T;T)
Reference Rs483353070(C;C)
Significance Pathogenic
Disease Primrose syndrome
Variation info
Gene ZBTB20
CLNDBN Primrose syndrome
Reversed 1
HGVS NC_000003.11:g.114058217G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000133613.4,