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rs140709867

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs140709867(C;T)
Make rs140709867(T;T)
ReferenceGRCh38 38.1/142
Chromosome17
Position42565668
GeneCOASY, MLX
is asnp
is mentioned by
dbSNPrs140709867
dbSNP (classic)rs140709867
ClinGenrs140709867
ebirs140709867
HLIrs140709867
Exacrs140709867
Gnomadrs140709867
Varsomers140709867
LitVarrs140709867
Maprs140709867
PheGenIrs140709867
Biobankrs140709867
1000 genomesrs140709867
hgdprs140709867
ensemblrs140709867
geneviewrs140709867
scholarrs140709867
googlers140709867
pharmgkbrs140709867
gwascentralrs140709867
openSNPrs140709867
23andMers140709867
SNPshotrs140709867
SNPdbers140709867
MSV3drs140709867
GWAS Ctlgrs140709867
Max Magnitude0
ClinVar
Risk rs140709867(A;A) rs140709867(T;T)
Alt rs140709867(A;A) rs140709867(T;T)
Reference Rs140709867(C;C)
Significance Pathogenic
Disease Neurodegeneration with brain iron accumulation 6
Variation info
Gene COASY MLX
CLNDBN Neurodegeneration with brain iron accumulation 6
Reversed 0
HGVS NC_000017.10:g.40717686C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000087062.3,