rs34006675
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs34006675(A;A) |
Make rs34006675(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 105604218 |
Gene | FKTN |
is a | snp |
is | mentioned by |
dbSNP | rs34006675 |
dbSNP (classic) | rs34006675 |
ClinGen | rs34006675 |
ebi | rs34006675 |
HLI | rs34006675 |
Exac | rs34006675 |
Gnomad | rs34006675 |
Varsome | rs34006675 |
LitVar | rs34006675 |
Map | rs34006675 |
PheGenI | rs34006675 |
Biobank | rs34006675 |
1000 genomes | rs34006675 |
hgdp | rs34006675 |
ensembl | rs34006675 |
geneview | rs34006675 |
scholar | rs34006675 |
rs34006675 | |
pharmgkb | rs34006675 |
gwascentral | rs34006675 |
openSNP | rs34006675 |
23andMe | rs34006675 |
SNPshot | rs34006675 |
SNPdbe | rs34006675 |
MSV3d | rs34006675 |
GWAS Ctlg | rs34006675 |
GMAF | 0.03535 |
Max Magnitude | 0 |
? | (A;G) (G;G) | |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs34006675(A;A) |
Alt | rs34006675(A;A) |
Reference | Rs34006675(G;G) |
Significance | Non-pathogenic |
Disease | Fukuyama congenital muscular dystrophy not specified Walker-Warburg congenital muscular dystrophy |
Variation | info |
Gene | FKTN |
CLNDBN | Fukuyama congenital muscular dystrophy not specified Walker-Warburg congenital muscular dystrophy |
Reversed | 0 |
HGVS | NC_000009.11:g.108366499G>A |
CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000003366.3, RCV000079434.7, RCV000460207.1, |