rs727504119
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs727504119(C;T) |
Make rs727504119(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 17 |
Position | 17797626 |
Gene | RAI1 |
is a | snp |
is | mentioned by |
dbSNP | rs727504119 |
dbSNP (classic) | rs727504119 |
ClinGen | rs727504119 |
ebi | rs727504119 |
HLI | rs727504119 |
Exac | rs727504119 |
Gnomad | rs727504119 |
Varsome | rs727504119 |
LitVar | rs727504119 |
Map | rs727504119 |
PheGenI | rs727504119 |
Biobank | rs727504119 |
1000 genomes | rs727504119 |
hgdp | rs727504119 |
ensembl | rs727504119 |
geneview | rs727504119 |
scholar | rs727504119 |
rs727504119 | |
pharmgkb | rs727504119 |
gwascentral | rs727504119 |
openSNP | rs727504119 |
23andMe | rs727504119 |
SNPshot | rs727504119 |
SNPdbe | rs727504119 |
MSV3d | rs727504119 |
GWAS Ctlg | rs727504119 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727504119(T;T) |
Alt | rs727504119(T;T) |
Reference | Rs727504119(C;C) |
Significance | Pathogenic |
Disease | not provided Smith-Magenis syndrome |
Variation | info |
Gene | RAI1 |
CLNDBN | not provided Smith-Magenis syndrome |
Reversed | 0 |
HGVS | NC_000017.10:g.17700940C>T |
CLNSRC | |
CLNACC | RCV000153806.2, RCV000177370.1, |