rs35689081
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs35689081(C;T) |
Make rs35689081(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 77142783 |
Gene | MYO7A |
is a | snp |
is | mentioned by |
dbSNP | rs35689081 |
dbSNP (classic) | rs35689081 |
ClinGen | rs35689081 |
ebi | rs35689081 |
HLI | rs35689081 |
Exac | rs35689081 |
Gnomad | rs35689081 |
Varsome | rs35689081 |
LitVar | rs35689081 |
Map | rs35689081 |
PheGenI | rs35689081 |
Biobank | rs35689081 |
1000 genomes | rs35689081 |
hgdp | rs35689081 |
ensembl | rs35689081 |
geneview | rs35689081 |
scholar | rs35689081 |
rs35689081 | |
pharmgkb | rs35689081 |
gwascentral | rs35689081 |
openSNP | rs35689081 |
23andMe | rs35689081 |
SNPshot | rs35689081 |
SNPdbe | rs35689081 |
MSV3d | rs35689081 |
GWAS Ctlg | rs35689081 |
GMAF | 0.01469 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs35689081(A;A) rs35689081(T;T) |
Alt | rs35689081(A;A) rs35689081(T;T) |
Reference | Rs35689081(C;C) |
Significance | Pathogenic |
Disease | Usher syndrome Usher syndrome not specified Retinitis pigmentosa-deafness syndrome Nonsyndromic Hearing Loss Nonsyndromic Hearing Loss |
Variation | info |
Gene | MYO7A |
CLNDBN | Usher syndrome, type 1B Usher syndrome, type 1 not specified Retinitis pigmentosa-deafness syndrome Nonsyndromic Hearing Loss, Dominant Nonsyndromic Hearing Loss, Recessive |
Reversed | 0 |
HGVS | NC_000011.9:g.76853829C>A; NC_000011.9:g.76853829C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012634.27, RCV000154341.1, RCV000036252.3, RCV000273950.1, RCV000331379.1, RCV000357024.1, |