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rs387906982

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906982(C;C)
Make rs387906982(C;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position39185739
GeneWDR19
is asnp
is mentioned by
dbSNPrs387906982
ebirs387906982
HLIrs387906982
Exacrs387906982
Varsomers387906982
Maprs387906982
PheGenIrs387906982
hapmaprs387906982
1000 genomesrs387906982
hgdprs387906982
ensemblrs387906982
gopubmedrs387906982
geneviewrs387906982
scholarrs387906982
googlers387906982
pharmgkbrs387906982
gwascentralrs387906982
openSNPrs387906982
23andMers387906982
23andMe allrs387906982
SNP Nexus

SNPshotrs387906982
SNPdbers387906982
MSV3drs387906982
GWAS Ctlgrs387906982
Max Magnitude0
ClinVar
Risk rs387906982(C;C)
Alt rs387906982(C;C)
Reference rs387906982(T;T)
Significance Pathogenic
Disease Asphyxiating thoracic dystrophy 5
Variation info
Gene WDR19
CLNDBN Asphyxiating thoracic dystrophy 5
Reversed 0
HGVS NC_000004.11:g.39187359T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000023683.4,