rs879255238
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs879255238(-;-) |
Make rs879255238(-;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 15 |
Position | 23566419 |
Gene | MKRN3 |
is a | snp |
is | mentioned by |
dbSNP | rs879255238 |
dbSNP (classic) | rs879255238 |
ClinGen | rs879255238 |
ebi | rs879255238 |
HLI | rs879255238 |
Exac | rs879255238 |
Gnomad | rs879255238 |
Varsome | rs879255238 |
LitVar | rs879255238 |
Map | rs879255238 |
PheGenI | rs879255238 |
Biobank | rs879255238 |
1000 genomes | rs879255238 |
hgdp | rs879255238 |
ensembl | rs879255238 |
geneview | rs879255238 |
scholar | rs879255238 |
rs879255238 | |
pharmgkb | rs879255238 |
gwascentral | rs879255238 |
openSNP | rs879255238 |
23andMe | rs879255238 |
SNPshot | rs879255238 |
SNPdbe | rs879255238 |
MSV3d | rs879255238 |
GWAS Ctlg | rs879255238 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879255238(-;-) |
Alt | rs879255238(-;-) |
Reference | Rs879255238(C;C) |
Significance | Pathogenic |
Disease | Precocious puberty |
Variation | info |
Gene | MKRN3 |
CLNDBN | Precocious puberty, central, 2 |
Reversed | 0 |
HGVS | NC_000015.9:g.23811566delC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000050238.2, |