rs2413396
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(T;T) | 0 | common in complete genomics |
Make rs2413396(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 22 |
Position | 36312039 |
Gene | MYH9 |
is a | snp |
is | mentioned by |
dbSNP | rs2413396 |
dbSNP (classic) | rs2413396 |
ClinGen | rs2413396 |
ebi | rs2413396 |
HLI | rs2413396 |
Exac | rs2413396 |
Gnomad | rs2413396 |
Varsome | rs2413396 |
LitVar | rs2413396 |
Map | rs2413396 |
PheGenI | rs2413396 |
Biobank | rs2413396 |
1000 genomes | rs2413396 |
hgdp | rs2413396 |
ensembl | rs2413396 |
geneview | rs2413396 |
scholar | rs2413396 |
rs2413396 | |
pharmgkb | rs2413396 |
gwascentral | rs2413396 |
openSNP | rs2413396 |
23andMe | rs2413396 |
SNPshot | rs2413396 |
SNPdbe | rs2413396 |
MSV3d | rs2413396 |
GWAS Ctlg | rs2413396 |
GMAF | 0.1947 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
[PMID 20124285] Dense mapping of MYH9 localizes the strongest kidney disease associations to the region of introns 13 to 15
[PMID 21245129] Polymorphisms in the nonmuscle myosin heavy chain 9 gene (MYH9) are associated with the progression of IgA nephropathy in Chinese
[PMID 20144966] African ancestry allelic variation at the MYH9 gene contributes to increased susceptibility to non-diabetic end-stage kidney disease in Hispanic Americans.
ClinVar | |
---|---|
Risk | Rs2413396(T;T) |
Alt | Rs2413396(T;T) |
Reference | Rs2413396(C;C) |
Significance | Non-pathogenic |
Disease | not specified MYH9-related disorder Nonsyndromic Hearing Loss |
Variation | info |
Gene | MYH9 |
CLNDBN | not specified MYH9-related disorder Nonsyndromic Hearing Loss, Dominant |
Reversed | 0 |
HGVS | NC_000022.10:g.36708084C>T |
CLNSRC | ClinVar |
CLNACC | RCV000037548.3, RCV000326334.1, RCV000378689.1, |