rs727505395
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs727505395(A;A) |
Make rs727505395(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 18 |
Position | 49878940 |
Gene | MYO5B |
is a | snp |
is | mentioned by |
dbSNP | rs727505395 |
dbSNP (classic) | rs727505395 |
ClinGen | rs727505395 |
ebi | rs727505395 |
HLI | rs727505395 |
Exac | rs727505395 |
Gnomad | rs727505395 |
Varsome | rs727505395 |
LitVar | rs727505395 |
Map | rs727505395 |
PheGenI | rs727505395 |
Biobank | rs727505395 |
1000 genomes | rs727505395 |
hgdp | rs727505395 |
ensembl | rs727505395 |
geneview | rs727505395 |
scholar | rs727505395 |
rs727505395 | |
pharmgkb | rs727505395 |
gwascentral | rs727505395 |
openSNP | rs727505395 |
23andMe | rs727505395 |
SNPshot | rs727505395 |
SNPdbe | rs727505395 |
MSV3d | rs727505395 |
GWAS Ctlg | rs727505395 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727505395(A;A) |
Alt | rs727505395(A;A) |
Reference | Rs727505395(G;G) |
Significance | Probable-Pathogenic |
Disease | Congenital microvillous atrophy |
Variation | info |
Gene | MYO5B |
CLNDBN | Congenital microvillous atrophy |
Reversed | 1 |
HGVS | NC_000018.9:g.47405310C>T |
CLNSRC | |
CLNACC | RCV000157066.2, |