rs1057517160
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CAGC;CAGC) | 0 | common in clinvar |
Make rs1057517160(-;-) |
Make rs1057517160(-;CAGC) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 9 |
Position | 105607829 |
Gene | FKTN |
is a | snp |
is | mentioned by |
dbSNP | rs1057517160 |
dbSNP (classic) | rs1057517160 |
ClinGen | rs1057517160 |
ebi | rs1057517160 |
HLI | rs1057517160 |
Exac | rs1057517160 |
Gnomad | rs1057517160 |
Varsome | rs1057517160 |
LitVar | rs1057517160 |
Map | rs1057517160 |
PheGenI | rs1057517160 |
Biobank | rs1057517160 |
1000 genomes | rs1057517160 |
hgdp | rs1057517160 |
ensembl | rs1057517160 |
geneview | rs1057517160 |
scholar | rs1057517160 |
rs1057517160 | |
pharmgkb | rs1057517160 |
gwascentral | rs1057517160 |
openSNP | rs1057517160 |
23andMe | rs1057517160 |
SNPshot | rs1057517160 |
SNPdbe | rs1057517160 |
MSV3d | rs1057517160 |
GWAS Ctlg | rs1057517160 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057517160(-;-) |
Alt | rs1057517160(-;-) |
Reference | Rs1057517160(CAGC;CAGC) |
Significance | Probable-Pathogenic |
Disease | Fukuyama congenital muscular dystrophy |
Variation | info |
Gene | FKTN |
CLNDBN | Fukuyama congenital muscular dystrophy |
Reversed | 0 |
HGVS | NC_000009.11:g.108370110_108370113delCAGC |
CLNSRC | |
CLNACC | RCV000409546.1, |