rs17715416
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs17715416(A;G) |
Make rs17715416(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 18 |
Position | 49962255 |
Gene | MYO5B |
is a | snp |
is | mentioned by |
dbSNP | rs17715416 |
dbSNP (classic) | rs17715416 |
ClinGen | rs17715416 |
ebi | rs17715416 |
HLI | rs17715416 |
Exac | rs17715416 |
Gnomad | rs17715416 |
Varsome | rs17715416 |
LitVar | rs17715416 |
Map | rs17715416 |
PheGenI | rs17715416 |
Biobank | rs17715416 |
1000 genomes | rs17715416 |
hgdp | rs17715416 |
ensembl | rs17715416 |
geneview | rs17715416 |
scholar | rs17715416 |
rs17715416 | |
pharmgkb | rs17715416 |
gwascentral | rs17715416 |
openSNP | rs17715416 |
23andMe | rs17715416 |
SNPshot | rs17715416 |
SNPdbe | rs17715416 |
MSV3d | rs17715416 |
GWAS Ctlg | rs17715416 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
[PMID 27242896] Fine-Mapping of 18q21.1 Locus Identifies Single Nucleotide Polymorphisms Associated with Nonsyndromic Cleft Lip with or without Cleft Palate.
ClinVar | |
---|---|
Risk | rs17715416(G;G) |
Alt | rs17715416(G;G) |
Reference | Rs17715416(A;A) |
Significance | Non-pathogenic |
Disease | Diarrhea with Microvillus Atrophy not specified |
Variation | info |
Gene | MYO5B |
CLNDBN | Diarrhea with Microvillus Atrophy not specified |
Reversed | 0 |
HGVS | NC_000018.9:g.47488625A>G |
CLNSRC | |
CLNACC | RCV000375645.1, RCV000454797.1, |