rs121912560
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs121912560(A;G) |
Make rs121912560(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 75841299 |
Gene | MYO6 |
is a | snp |
is | mentioned by |
dbSNP | rs121912560 |
dbSNP (classic) | rs121912560 |
ClinGen | rs121912560 |
ebi | rs121912560 |
HLI | rs121912560 |
Exac | rs121912560 |
Gnomad | rs121912560 |
Varsome | rs121912560 |
LitVar | rs121912560 |
Map | rs121912560 |
PheGenI | rs121912560 |
Biobank | rs121912560 |
1000 genomes | rs121912560 |
hgdp | rs121912560 |
ensembl | rs121912560 |
geneview | rs121912560 |
scholar | rs121912560 |
rs121912560 | |
pharmgkb | rs121912560 |
gwascentral | rs121912560 |
openSNP | rs121912560 |
23andMe | rs121912560 |
SNPshot | rs121912560 |
SNPdbe | rs121912560 |
MSV3d | rs121912560 |
GWAS Ctlg | rs121912560 |
Merged from | Rs28936391 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121912560(G;G) |
Alt | rs121912560(G;G) |
Reference | Rs121912560(A;A) |
Significance | Pathogenic |
Disease | Sensorineural deafness with hypertrophic cardiomyopathy Nonsyndromic hearing loss and deafness |
Variation | info |
Gene | MYO6 |
CLNDBN | Sensorineural deafness with hypertrophic cardiomyopathy Nonsyndromic hearing loss and deafness |
Reversed | 0 |
HGVS | NC_000006.11:g.76551016A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009112.2, RCV000219073.1, |