rs727504577
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CGGCC;CGGCC) | 0 | common in clinvar |
Make rs727504577(-;-) |
Make rs727504577(-;CGGCC) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 14 |
Position | 76498361 |
Gene | ESRRB |
is a | snp |
is | mentioned by |
dbSNP | rs727504577 |
dbSNP (classic) | rs727504577 |
ClinGen | rs727504577 |
ebi | rs727504577 |
HLI | rs727504577 |
Exac | rs727504577 |
Gnomad | rs727504577 |
Varsome | rs727504577 |
LitVar | rs727504577 |
Map | rs727504577 |
PheGenI | rs727504577 |
Biobank | rs727504577 |
1000 genomes | rs727504577 |
hgdp | rs727504577 |
ensembl | rs727504577 |
geneview | rs727504577 |
scholar | rs727504577 |
rs727504577 | |
pharmgkb | rs727504577 |
gwascentral | rs727504577 |
openSNP | rs727504577 |
23andMe | rs727504577 |
SNPshot | rs727504577 |
SNPdbe | rs727504577 |
MSV3d | rs727504577 |
GWAS Ctlg | rs727504577 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727504577(-;-) |
Alt | rs727504577(-;-) |
Reference | Rs727504577(CGGCC;CGGCC) |
Significance | Probable-Pathogenic |
Disease | Nonsyndromic hearing loss and deafness |
Variation | info |
Gene | ESRRB |
CLNDBN | Nonsyndromic hearing loss and deafness |
Reversed | 0 |
HGVS | NC_000014.8:g.76964704_76964708delCGGCC |
CLNSRC | |
CLNACC | RCV000155747.1, |