rs118203957
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs118203957(C;T) |
Make rs118203957(T;T) |
Reference | GRCh37 37.1/132 |
Chromosome | 5 |
Position | 69433088 |
Gene | MARVELD2 |
is a | snp |
is | mentioned by |
dbSNP | rs118203957 |
dbSNP (classic) | rs118203957 |
ClinGen | rs118203957 |
ebi | rs118203957 |
HLI | rs118203957 |
Exac | rs118203957 |
Gnomad | rs118203957 |
Varsome | rs118203957 |
LitVar | rs118203957 |
Map | rs118203957 |
PheGenI | rs118203957 |
Biobank | rs118203957 |
1000 genomes | rs118203957 |
hgdp | rs118203957 |
ensembl | rs118203957 |
geneview | rs118203957 |
scholar | rs118203957 |
rs118203957 | |
pharmgkb | rs118203957 |
gwascentral | rs118203957 |
openSNP | rs118203957 |
23andMe | rs118203957 |
SNPshot | rs118203957 |
SNPdbe | rs118203957 |
MSV3d | rs118203957 |
GWAS Ctlg | rs118203957 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs118203957(T;T) |
Alt | rs118203957(T;T) |
Reference | Rs118203957(C;C) |
Significance | Pathogenic |
Disease | Deafness Nonsyndromic hearing loss and deafness not provided |
Variation | info |
Gene | MARVELD2 |
CLNDBN | Deafness, neurosensory, autosomal recessive 49 Nonsyndromic hearing loss and deafness not provided |
Reversed | 0 |
HGVS | NC_000005.9:g.68728915C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001257.2, RCV000156595.1, RCV000340798.1, |