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rs886037753

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs886037753(A;A)
Make rs886037753(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome17
Position41769418
GeneJUP
is asnp
is mentioned by
dbSNPrs886037753
dbSNP (classic)rs886037753
ClinGenrs886037753
ebirs886037753
HLIrs886037753
Exacrs886037753
Gnomadrs886037753
Varsomers886037753
LitVarrs886037753
Maprs886037753
PheGenIrs886037753
Biobankrs886037753
1000 genomesrs886037753
hgdprs886037753
ensemblrs886037753
geneviewrs886037753
scholarrs886037753
googlers886037753
pharmgkbrs886037753
gwascentralrs886037753
openSNPrs886037753
23andMers886037753
23andMe allrs886037753
SNPshotrs886037753
SNPdbers886037753
MSV3drs886037753
GWAS Ctlgrs886037753
Max Magnitude0
ClinVar
Risk rs886037753(A;A)
Alt rs886037753(A;A)
Reference Rs886037753(G;G)
Significance Pathogenic
Disease Naxos disease
Variation info
Gene JUP
CLNDBN Naxos disease
Reversed 1
HGVS NC_000017.10:g.39925670C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000192505.2,