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rs12937241

From SNPedia

Merged intors1126821
Orientationminus
Stabilizedminus
Make rs12937241(A;A)
Make rs12937241(A;T)
Make rs12937241(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position41755893
GeneJUP
is asnp
is mentioned by
dbSNPrs12937241
ebirs12937241
HLIrs12937241
Exacrs12937241
Varsomers12937241
Maprs12937241
PheGenIrs12937241
hapmaprs12937241
1000 genomesrs12937241
hgdprs12937241
ensemblrs12937241
gopubmedrs12937241
geneviewrs12937241
scholarrs12937241
googlers12937241
pharmgkbrs12937241
gwascentralrs12937241
openSNPrs12937241
23andMers12937241
23andMe allrs12937241
SNP Nexus

SNPshotrs12937241
SNPdbers12937241
MSV3drs12937241
GWAS Ctlgrs12937241
StatusMerged into rs1126821
Max Magnitude
? (A;A) (A;T) (T;T) 28


Venter snp
Source plos
Gene JUP
allele A
frequency
sift TOLERATED
HuRef 1103645325133
Disease Association Defects in JUP are the cause of Naxos disease (MIM:601214). Naxos disease is an autosomal recessive disorder combining non-epidermolytic palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and wooly hair.