rs137853003
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs137853003(C;G) |
Make rs137853003(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 54369194 |
Gene | PCDH15 |
is a | snp |
is | mentioned by |
dbSNP | rs137853003 |
dbSNP (classic) | rs137853003 |
ClinGen | rs137853003 |
ebi | rs137853003 |
HLI | rs137853003 |
Exac | rs137853003 |
Gnomad | rs137853003 |
Varsome | rs137853003 |
LitVar | rs137853003 |
Map | rs137853003 |
PheGenI | rs137853003 |
Biobank | rs137853003 |
1000 genomes | rs137853003 |
hgdp | rs137853003 |
ensembl | rs137853003 |
geneview | rs137853003 |
scholar | rs137853003 |
rs137853003 | |
pharmgkb | rs137853003 |
gwascentral | rs137853003 |
openSNP | rs137853003 |
23andMe | rs137853003 |
SNPshot | rs137853003 |
SNPdbe | rs137853003 |
MSV3d | rs137853003 |
GWAS Ctlg | rs137853003 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137853003(A;A) rs137853003(G;G) rs137853003(T;T) |
Alt | rs137853003(A;A) rs137853003(G;G) rs137853003(T;T) |
Reference | Rs137853003(C;C) |
Significance | Other |
Disease | Usher syndrome Deafness Nonsyndromic hearing loss and deafness |
Variation | info |
Gene | PCDH15 |
CLNDBN | Usher syndrome, type 1F Deafness, autosomal recessive 23 Nonsyndromic hearing loss and deafness |
Reversed | 1 |
HGVS | NC_000010.10:g.56128954G>A; NC_000010.10:g.56128954G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000240654.1, RCV000005222.4, RCV000211736.1, |