rs727504555
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs727504555(A;G) |
Make rs727504555(G;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | MT |
Position | 1027 |
is a | snp |
is | mentioned by |
dbSNP | rs727504555 |
dbSNP (classic) | rs727504555 |
ClinGen | rs727504555 |
ebi | rs727504555 |
HLI | rs727504555 |
Exac | rs727504555 |
Gnomad | rs727504555 |
Varsome | rs727504555 |
LitVar | rs727504555 |
Map | rs727504555 |
PheGenI | rs727504555 |
Biobank | rs727504555 |
1000 genomes | rs727504555 |
hgdp | rs727504555 |
ensembl | rs727504555 |
geneview | rs727504555 |
scholar | rs727504555 |
rs727504555 | |
pharmgkb | rs727504555 |
gwascentral | rs727504555 |
openSNP | rs727504555 |
23andMe | rs727504555 |
SNPshot | rs727504555 |
SNPdbe | rs727504555 |
MSV3d | rs727504555 |
GWAS Ctlg | rs727504555 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727504555(G;G) |
Alt | rs727504555(G;G) |
Reference | Rs727504555(A;A) |
Significance | Probable-Pathogenic |
Disease | Deafness |
Variation | info |
Gene | |
CLNDBN | Deafness, nonsyndromic sensorineural, mitochondrial |
Reversed | 0 |
HGVS | NC_012920.1:m.1027A>G |
CLNSRC | |
CLNACC | RCV000155719.1, |