rs267606856
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs267606856(C;T) |
Make rs267606856(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 42962919 |
Gene | GRXCR1 |
is a | snp |
is | mentioned by |
dbSNP | rs267606856 |
dbSNP (classic) | rs267606856 |
ClinGen | rs267606856 |
ebi | rs267606856 |
HLI | rs267606856 |
Exac | rs267606856 |
Gnomad | rs267606856 |
Varsome | rs267606856 |
LitVar | rs267606856 |
Map | rs267606856 |
PheGenI | rs267606856 |
Biobank | rs267606856 |
1000 genomes | rs267606856 |
hgdp | rs267606856 |
ensembl | rs267606856 |
geneview | rs267606856 |
scholar | rs267606856 |
rs267606856 | |
pharmgkb | rs267606856 |
gwascentral | rs267606856 |
openSNP | rs267606856 |
23andMe | rs267606856 |
SNPshot | rs267606856 |
SNPdbe | rs267606856 |
MSV3d | rs267606856 |
GWAS Ctlg | rs267606856 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267606856(T;T) |
Alt | rs267606856(T;T) |
Reference | Rs267606856(C;C) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | GRXCR1 |
CLNDBN | Deafness, autosomal recessive 25 |
Reversed | 0 |
HGVS | NC_000004.11:g.42964936C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000000219.2, |