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rs1126821

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1126821(A;T)
Make rs1126821(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position41755893
GeneJUP
is asnp
is mentioned by
dbSNPrs1126821
ebirs1126821
HLIrs1126821
Exacrs1126821
Varsomers1126821
Maprs1126821
PheGenIrs1126821
hapmaprs1126821
1000 genomesrs1126821
hgdprs1126821
ensemblrs1126821
gopubmedrs1126821
geneviewrs1126821
scholarrs1126821
googlers1126821
pharmgkbrs1126821
gwascentralrs1126821
openSNPrs1126821
23andMers1126821
23andMe allrs1126821
SNP Nexus

SNPshotrs1126821
SNPdbers1126821
MSV3drs1126821
GWAS Ctlgrs1126821
Merged fromRs12937241
GMAF0.4279
Max Magnitude0
? (A;A) (A;T) (T;T) 28
OMIM611528
Desc
Variant
Relatedalso
GET Evidence
JUP-M697L
aa_change Met697Leu
aa_change_short M697L
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.698922
summary


ClinVar
Risk rs1126821(T;T)
Alt rs1126821(T;T)
Reference rs1126821(A;A)
Significance Non-pathogenic
Disease Naxos disease not specified
Variation info
Gene JUP
CLNDBN Naxos disease not specified
Reversed 1
HGVS NC_000017.10:g.39912145T>A
CLNSRC ClinVar GeneDx GeneReviews
CLNACC RCV000020467.1, RCV000039075.4,