rs727505394
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs727505394(A;A) |
Make rs727505394(A;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 18 |
Position | 49936250 |
Gene | MYO5B |
is a | snp |
is | mentioned by |
dbSNP | rs727505394 |
dbSNP (classic) | rs727505394 |
ClinGen | rs727505394 |
ebi | rs727505394 |
HLI | rs727505394 |
Exac | rs727505394 |
Gnomad | rs727505394 |
Varsome | rs727505394 |
LitVar | rs727505394 |
Map | rs727505394 |
PheGenI | rs727505394 |
Biobank | rs727505394 |
1000 genomes | rs727505394 |
hgdp | rs727505394 |
ensembl | rs727505394 |
geneview | rs727505394 |
scholar | rs727505394 |
rs727505394 | |
pharmgkb | rs727505394 |
gwascentral | rs727505394 |
openSNP | rs727505394 |
23andMe | rs727505394 |
SNPshot | rs727505394 |
SNPdbe | rs727505394 |
MSV3d | rs727505394 |
GWAS Ctlg | rs727505394 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727505394(A;A) |
Alt | rs727505394(A;A) |
Reference | Rs727505394(T;T) |
Significance | Pathogenic |
Disease | Congenital microvillous atrophy |
Variation | info |
Gene | MYO5B |
CLNDBN | Congenital microvillous atrophy |
Reversed | 1 |
HGVS | NC_000018.9:g.47462620A>T |
CLNSRC | |
CLNACC | RCV000157065.2, |