rs797044960
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs797044960(A;A) |
Make rs797044960(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 14 |
Position | 60648817 |
Gene | SIX1 |
is a | snp |
is | mentioned by |
dbSNP | rs797044960 |
dbSNP (classic) | rs797044960 |
ClinGen | rs797044960 |
ebi | rs797044960 |
HLI | rs797044960 |
Exac | rs797044960 |
Gnomad | rs797044960 |
Varsome | rs797044960 |
LitVar | rs797044960 |
Map | rs797044960 |
PheGenI | rs797044960 |
Biobank | rs797044960 |
1000 genomes | rs797044960 |
hgdp | rs797044960 |
ensembl | rs797044960 |
geneview | rs797044960 |
scholar | rs797044960 |
rs797044960 | |
pharmgkb | rs797044960 |
gwascentral | rs797044960 |
openSNP | rs797044960 |
23andMe | rs797044960 |
SNPshot | rs797044960 |
SNPdbe | rs797044960 |
MSV3d | rs797044960 |
GWAS Ctlg | rs797044960 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044960(A;A) |
Alt | rs797044960(A;A) |
Reference | Rs797044960(G;G) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | SIX1 |
CLNDBN | Deafness, autosomal dominant 23 |
Reversed | 1 |
HGVS | NC_000014.8:g.61115535C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000190433.3, |