rs794728016
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs794728016(G;G) |
Make rs794728016(G;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 7 |
Position | 116763206 |
Gene | MET |
is a | snp |
is | mentioned by |
dbSNP | rs794728016 |
dbSNP (classic) | rs794728016 |
ClinGen | rs794728016 |
ebi | rs794728016 |
HLI | rs794728016 |
Exac | rs794728016 |
Gnomad | rs794728016 |
Varsome | rs794728016 |
LitVar | rs794728016 |
Map | rs794728016 |
PheGenI | rs794728016 |
Biobank | rs794728016 |
1000 genomes | rs794728016 |
hgdp | rs794728016 |
ensembl | rs794728016 |
geneview | rs794728016 |
scholar | rs794728016 |
rs794728016 | |
pharmgkb | rs794728016 |
gwascentral | rs794728016 |
openSNP | rs794728016 |
23andMe | rs794728016 |
SNPshot | rs794728016 |
SNPdbe | rs794728016 |
MSV3d | rs794728016 |
GWAS Ctlg | rs794728016 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794728016(G;G) |
Alt | rs794728016(G;G) |
Reference | Rs794728016(T;T) |
Significance | Pathogenic |
Disease | Nonsyndromic Hearing Loss and Deafness Deafness |
Variation | info |
Gene | MET |
CLNDBN | Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive Deafness, autosomal recessive 97 |
Reversed | 0 |
HGVS | NC_000007.13:g.116403260T>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000185580.2, RCV000202585.2, |