rs886037753
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs886037753(A;A) |
Make rs886037753(A;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 17 |
Position | 41769418 |
Gene | JUP |
is a | snp |
is | mentioned by |
dbSNP | rs886037753 |
dbSNP (classic) | rs886037753 |
ClinGen | rs886037753 |
ebi | rs886037753 |
HLI | rs886037753 |
Exac | rs886037753 |
Gnomad | rs886037753 |
Varsome | rs886037753 |
LitVar | rs886037753 |
Map | rs886037753 |
PheGenI | rs886037753 |
Biobank | rs886037753 |
1000 genomes | rs886037753 |
hgdp | rs886037753 |
ensembl | rs886037753 |
geneview | rs886037753 |
scholar | rs886037753 |
rs886037753 | |
pharmgkb | rs886037753 |
gwascentral | rs886037753 |
openSNP | rs886037753 |
23andMe | rs886037753 |
SNPshot | rs886037753 |
SNPdbe | rs886037753 |
MSV3d | rs886037753 |
GWAS Ctlg | rs886037753 |
Max Magnitude | 0 |
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, |