rs104894509
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs104894509(A;T) |
Make rs104894509(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 21258781 |
Gene | CRYM, LOC105371124 |
is a | snp |
is | mentioned by |
dbSNP | rs104894509 |
dbSNP (classic) | rs104894509 |
ClinGen | rs104894509 |
ebi | rs104894509 |
HLI | rs104894509 |
Exac | rs104894509 |
Gnomad | rs104894509 |
Varsome | rs104894509 |
LitVar | rs104894509 |
Map | rs104894509 |
PheGenI | rs104894509 |
Biobank | rs104894509 |
1000 genomes | rs104894509 |
hgdp | rs104894509 |
ensembl | rs104894509 |
geneview | rs104894509 |
scholar | rs104894509 |
rs104894509 | |
pharmgkb | rs104894509 |
gwascentral | rs104894509 |
openSNP | rs104894509 |
23andMe | rs104894509 |
SNPshot | rs104894509 |
SNPdbe | rs104894509 |
MSV3d | rs104894509 |
GWAS Ctlg | rs104894509 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894509(T;T) |
Alt | rs104894509(T;T) |
Reference | Rs104894509(A;A) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | CRYM |
CLNDBN | Deafness, autosomal dominant 40 |
Reversed | 1 |
HGVS | NC_000016.9:g.21270102T>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000018442.24, |