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rs387906980

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906980(C;C)
Make rs387906980(C;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position39231943
GeneWDR19
is asnp
is mentioned by
dbSNPrs387906980
dbSNP (classic)rs387906980
ClinGenrs387906980
ebirs387906980
HLIrs387906980
Exacrs387906980
Gnomadrs387906980
Varsomers387906980
LitVarrs387906980
Maprs387906980
PheGenIrs387906980
Biobankrs387906980
1000 genomesrs387906980
hgdprs387906980
ensemblrs387906980
geneviewrs387906980
scholarrs387906980
googlers387906980
pharmgkbrs387906980
gwascentralrs387906980
openSNPrs387906980
23andMers387906980
SNPshotrs387906980
SNPdbers387906980
MSV3drs387906980
GWAS Ctlgrs387906980
Max Magnitude0
ClinVar
Risk rs387906980(C;C)
Alt rs387906980(C;C)
Reference Rs387906980(T;T)
Significance Pathogenic
Disease Cranioectodermal dysplasia 4 Senior-Loken syndrome 8
Variation info
Gene WDR19
CLNDBN Cranioectodermal dysplasia 4 Senior-Loken syndrome 8
Reversed 0
HGVS NC_000004.11:g.39233563T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000023681.5, RCV000169775.3,