rs727504995
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs727504995(-;-) |
Make rs727504995(-;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 17 |
Position | 18142781 |
Gene | MYO15A |
is a | snp |
is | mentioned by |
dbSNP | rs727504995 |
dbSNP (classic) | rs727504995 |
ClinGen | rs727504995 |
ebi | rs727504995 |
HLI | rs727504995 |
Exac | rs727504995 |
Gnomad | rs727504995 |
Varsome | rs727504995 |
LitVar | rs727504995 |
Map | rs727504995 |
PheGenI | rs727504995 |
Biobank | rs727504995 |
1000 genomes | rs727504995 |
hgdp | rs727504995 |
ensembl | rs727504995 |
geneview | rs727504995 |
scholar | rs727504995 |
rs727504995 | |
pharmgkb | rs727504995 |
gwascentral | rs727504995 |
openSNP | rs727504995 |
23andMe | rs727504995 |
SNPshot | rs727504995 |
SNPdbe | rs727504995 |
MSV3d | rs727504995 |
GWAS Ctlg | rs727504995 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727504995(-;-) |
Alt | rs727504995(-;-) |
Reference | Rs727504995(A;A) |
Significance | Pathogenic |
Disease | Nonsyndromic hearing loss and deafness |
Variation | info |
Gene | MYO15A |
CLNDBN | Nonsyndromic hearing loss and deafness |
Reversed | 0 |
HGVS | NC_000017.10:g.18046095delA |
CLNSRC | |
CLNACC | RCV000156414.1, |