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rs1057517686

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Chromosome1
Position1529299
GeneATAD3A
is asnp
is mentioned by
dbSNPrs1057517686
dbSNP (old)rs1057517686
ClinGenrs1057517686
ebirs1057517686
HLIrs1057517686
Exacrs1057517686
Gnomadrs1057517686
Varsomers1057517686
Maprs1057517686
PheGenIrs1057517686
Biobankrs1057517686
1000 genomesrs1057517686
hgdprs1057517686
ensemblrs1057517686
gopubmedrs1057517686
geneviewrs1057517686
scholarrs1057517686
googlers1057517686
pharmgkbrs1057517686
gwascentralrs1057517686
openSNPrs1057517686
23andMers1057517686
23andMe allrs1057517686
SNPshotrs1057517686
SNPdbers1057517686
MSV3drs1057517686
GWAS Ctlgrs1057517686
Max Magnitude0
ClinVar
Risk rs1057517686(T;T)
Alt rs1057517686(T;T)
Reference Rs1057517686(C;C)
Significance Pathogenic
Disease Harel-Yoon syndrome not provided
Variation info
Gene ATAD3A
CLNDBN Harel-Yoon syndrome not provided
Reversed 0
HGVS NC_000001.10:g.1464679C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000412539.1, RCV000488909.1,