rs727504771
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GGGGGTCAGATAGGCCT;GGGGGTCAGATAGGCCT) | 0 | common in clinvar |
Make rs727504771(-;-) |
Make rs727504771(-;GGGTCAGATAGGCCTGG) |
Make rs727504771(GGGTCAGATAGGCCTGG;GGGTCAGATAGGCCTGG) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 19 |
Position | 3586548 |
Gene | GIPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs727504771 |
dbSNP (classic) | rs727504771 |
ClinGen | rs727504771 |
ebi | rs727504771 |
HLI | rs727504771 |
Exac | rs727504771 |
Gnomad | rs727504771 |
Varsome | rs727504771 |
LitVar | rs727504771 |
Map | rs727504771 |
PheGenI | rs727504771 |
Biobank | rs727504771 |
1000 genomes | rs727504771 |
hgdp | rs727504771 |
ensembl | rs727504771 |
geneview | rs727504771 |
scholar | rs727504771 |
rs727504771 | |
pharmgkb | rs727504771 |
gwascentral | rs727504771 |
openSNP | rs727504771 |
23andMe | rs727504771 |
SNPshot | rs727504771 |
SNPdbe | rs727504771 |
MSV3d | rs727504771 |
GWAS Ctlg | rs727504771 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727504771(-;-) |
Alt | rs727504771(-;-) |
Reference | Rs727504771(GGGGGTCAGATAGGCCT;GGGGGTCAGATAGGCCT) |
Significance | Pathogenic |
Disease | Nonsyndromic hearing loss and deafness |
Variation | info |
Gene | GIPC3 |
CLNDBN | Nonsyndromic hearing loss and deafness |
Reversed | 0 |
HGVS | NC_000019.9:g.3586546_3586562del17 |
CLNSRC | |
CLNACC | RCV000156085.1, |