rs398122997
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs398122997(-;C) |
Make rs398122997(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 101644222 |
Gene | GRHL2 |
is a | snp |
is | mentioned by |
dbSNP | rs398122997 |
dbSNP (classic) | rs398122997 |
ClinGen | rs398122997 |
ebi | rs398122997 |
HLI | rs398122997 |
Exac | rs398122997 |
Gnomad | rs398122997 |
Varsome | rs398122997 |
LitVar | rs398122997 |
Map | rs398122997 |
PheGenI | rs398122997 |
Biobank | rs398122997 |
1000 genomes | rs398122997 |
hgdp | rs398122997 |
ensembl | rs398122997 |
geneview | rs398122997 |
scholar | rs398122997 |
rs398122997 | |
pharmgkb | rs398122997 |
gwascentral | rs398122997 |
openSNP | rs398122997 |
23andMe | rs398122997 |
SNPshot | rs398122997 |
SNPdbe | rs398122997 |
MSV3d | rs398122997 |
GWAS Ctlg | rs398122997 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398122997(C;C) |
Alt | rs398122997(C;C) |
Reference | Rs398122997(-;-) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | GRHL2 |
CLNDBN | Deafness, autosomal dominant 28 |
Reversed | 0 |
HGVS | NC_000008.10:g.102656450dupC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000002279.3, |