rs762352115
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs762352115(A;A) |
Make rs762352115(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 5 |
Position | 69432676 |
Gene | MARVELD2 |
is a | snp |
is | mentioned by |
dbSNP | rs762352115 |
dbSNP (classic) | rs762352115 |
ClinGen | rs762352115 |
ebi | rs762352115 |
HLI | rs762352115 |
Exac | rs762352115 |
Gnomad | rs762352115 |
Varsome | rs762352115 |
LitVar | rs762352115 |
Map | rs762352115 |
PheGenI | rs762352115 |
Biobank | rs762352115 |
1000 genomes | rs762352115 |
hgdp | rs762352115 |
ensembl | rs762352115 |
geneview | rs762352115 |
scholar | rs762352115 |
rs762352115 | |
pharmgkb | rs762352115 |
gwascentral | rs762352115 |
openSNP | rs762352115 |
23andMe | rs762352115 |
SNPshot | rs762352115 |
SNPdbe | rs762352115 |
MSV3d | rs762352115 |
GWAS Ctlg | rs762352115 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs762352115(A;A) |
Alt | rs762352115(A;A) |
Reference | Rs762352115(G;G) |
Significance | Pathogenic |
Disease | Nonsyndromic hearing loss and deafness |
Variation | info |
Gene | MARVELD2 |
CLNDBN | Nonsyndromic hearing loss and deafness |
Reversed | 0 |
HGVS | NC_000005.9:g.68728503G>A |
CLNSRC | |
CLNACC | RCV000214632.1, |