rs387907016
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs387907016(A;A) |
Make rs387907016(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 122022075 |
Gene | ILDR1 |
is a | snp |
is | mentioned by |
dbSNP | rs387907016 |
dbSNP (classic) | rs387907016 |
ClinGen | rs387907016 |
ebi | rs387907016 |
HLI | rs387907016 |
Exac | rs387907016 |
Gnomad | rs387907016 |
Varsome | rs387907016 |
LitVar | rs387907016 |
Map | rs387907016 |
PheGenI | rs387907016 |
Biobank | rs387907016 |
1000 genomes | rs387907016 |
hgdp | rs387907016 |
ensembl | rs387907016 |
geneview | rs387907016 |
scholar | rs387907016 |
rs387907016 | |
pharmgkb | rs387907016 |
gwascentral | rs387907016 |
openSNP | rs387907016 |
23andMe | rs387907016 |
SNPshot | rs387907016 |
SNPdbe | rs387907016 |
MSV3d | rs387907016 |
GWAS Ctlg | rs387907016 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387907016(A;A) |
Alt | rs387907016(A;A) |
Reference | Rs387907016(G;G) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | ILDR1 |
CLNDBN | Deafness, autosomal recessive 42 |
Reversed | 1 |
HGVS | NC_000003.11:g.121740922C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000023782.3, |