rs201587138
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs201587138(A;A) |
Make rs201587138(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 18 |
Position | 46529227 |
Gene | LOXHD1 |
is a | snp |
is | mentioned by |
dbSNP | rs201587138 |
dbSNP (classic) | rs201587138 |
ClinGen | rs201587138 |
ebi | rs201587138 |
HLI | rs201587138 |
Exac | rs201587138 |
Gnomad | rs201587138 |
Varsome | rs201587138 |
LitVar | rs201587138 |
Map | rs201587138 |
PheGenI | rs201587138 |
Biobank | rs201587138 |
1000 genomes | rs201587138 |
hgdp | rs201587138 |
ensembl | rs201587138 |
geneview | rs201587138 |
scholar | rs201587138 |
rs201587138 | |
pharmgkb | rs201587138 |
gwascentral | rs201587138 |
openSNP | rs201587138 |
23andMe | rs201587138 |
SNPshot | rs201587138 |
SNPdbe | rs201587138 |
MSV3d | rs201587138 |
GWAS Ctlg | rs201587138 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201587138(A;A) rs201587138(T;T) |
Alt | rs201587138(A;A) rs201587138(T;T) |
Reference | Rs201587138(G;G) |
Significance | Other |
Disease | Nonsyndromic hearing loss and deafness Deafness not provided Nonsyndromic Hearing Loss |
Variation | info |
Gene | LOXHD1 |
CLNDBN | Nonsyndromic hearing loss and deafness Deafness, autosomal recessive 77 not provided Nonsyndromic Hearing Loss, Recessive |
Reversed | 0 |
HGVS | NC_000018.9:g.44109190G>A |
CLNSRC | |
CLNACC | RCV000155144.2, RCV000225012.1, RCV000256002.1, RCV000275728.1, RCV000381729.1, |