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rs1057517687

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Chromosome1
Position1512426
GeneATAD3A
is asnp
is mentioned by
dbSNPrs1057517687
dbSNP (old)rs1057517687
ClinGenrs1057517687
ebirs1057517687
HLIrs1057517687
Exacrs1057517687
Gnomadrs1057517687
Varsomers1057517687
Maprs1057517687
PheGenIrs1057517687
Biobankrs1057517687
1000 genomesrs1057517687
hgdprs1057517687
ensemblrs1057517687
gopubmedrs1057517687
geneviewrs1057517687
scholarrs1057517687
googlers1057517687
pharmgkbrs1057517687
gwascentralrs1057517687
openSNPrs1057517687
23andMers1057517687
23andMe allrs1057517687
SNPshotrs1057517687
SNPdbers1057517687
MSV3drs1057517687
GWAS Ctlgrs1057517687
Max Magnitude0
ClinVar
Risk rs1057517687(T;T)
Alt rs1057517687(T;T)
Reference Rs1057517687(C;C)
Significance Pathogenic
Disease Harel-Yoon syndrome not specified
Variation info
Gene ATAD3A
CLNDBN Harel-Yoon syndrome not specified
Reversed 0
HGVS NC_000001.10:g.1447806C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000412620.1, RCV000488882.1,