rs727502868
From SNPedia
Merged into | rs527236212 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs727502868(-;-) |
Make rs727502868(-;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 231352614 |
Gene | SPRTN |
is a | snp |
is | mentioned by |
dbSNP | rs727502868 |
dbSNP (classic) | rs727502868 |
ClinGen | rs727502868 |
ebi | rs727502868 |
HLI | rs727502868 |
Exac | rs727502868 |
Gnomad | rs727502868 |
Varsome | rs727502868 |
LitVar | rs727502868 |
Map | rs727502868 |
PheGenI | rs727502868 |
Biobank | rs727502868 |
1000 genomes | rs727502868 |
hgdp | rs727502868 |
ensembl | rs727502868 |
geneview | rs727502868 |
scholar | rs727502868 |
rs727502868 | |
pharmgkb | rs727502868 |
gwascentral | rs727502868 |
openSNP | rs727502868 |
23andMe | rs727502868 |
SNPshot | rs727502868 |
SNPdbe | rs727502868 |
MSV3d | rs727502868 |
GWAS Ctlg | rs727502868 |
Status | Merged into rs527236212 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs727502868(A;A) |
Significance | Pathogenic |
Disease | Ruijs-aalfs syndrome |
Variation | info |
Gene | SPRTN |
CLNDBN | Ruijs-aalfs syndrome |
Reversed | 0 |
HGVS | NC_000001.10:g.231488360delA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000150048.3, |