rs267606854
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs267606854(C;T) |
Make rs267606854(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 108897592 |
Gene | GPSM2 |
is a | snp |
is | mentioned by |
dbSNP | rs267606854 |
dbSNP (classic) | rs267606854 |
ClinGen | rs267606854 |
ebi | rs267606854 |
HLI | rs267606854 |
Exac | rs267606854 |
Gnomad | rs267606854 |
Varsome | rs267606854 |
LitVar | rs267606854 |
Map | rs267606854 |
PheGenI | rs267606854 |
Biobank | rs267606854 |
1000 genomes | rs267606854 |
hgdp | rs267606854 |
ensembl | rs267606854 |
geneview | rs267606854 |
scholar | rs267606854 |
rs267606854 | |
pharmgkb | rs267606854 |
gwascentral | rs267606854 |
openSNP | rs267606854 |
23andMe | rs267606854 |
SNPshot | rs267606854 |
SNPdbe | rs267606854 |
MSV3d | rs267606854 |
GWAS Ctlg | rs267606854 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267606854(T;T) |
Alt | rs267606854(T;T) |
Reference | Rs267606854(C;C) |
Significance | Pathogenic |
Disease | Chudley-McCullough syndrome Autosomal recessive non-syndromic sensorineural deafness type DFNB |
Variation | info |
Gene | GPSM2 |
CLNDBN | Chudley-McCullough syndrome Autosomal recessive non-syndromic sensorineural deafness type DFNB |
Reversed | 0 |
HGVS | NC_000001.10:g.109440214C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001897.2, RCV000454206.1, |