rs34997054
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs34997054(C;T) |
Make rs34997054(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 2 |
Position | 71511847 |
Gene | DYSF |
is a | snp |
is | mentioned by |
dbSNP | rs34997054 |
dbSNP (classic) | rs34997054 |
ClinGen | rs34997054 |
ebi | rs34997054 |
HLI | rs34997054 |
Exac | rs34997054 |
Gnomad | rs34997054 |
Varsome | rs34997054 |
LitVar | rs34997054 |
Map | rs34997054 |
PheGenI | rs34997054 |
Biobank | rs34997054 |
1000 genomes | rs34997054 |
hgdp | rs34997054 |
ensembl | rs34997054 |
geneview | rs34997054 |
scholar | rs34997054 |
rs34997054 | |
pharmgkb | rs34997054 |
gwascentral | rs34997054 |
openSNP | rs34997054 |
23andMe | rs34997054 |
SNPshot | rs34997054 |
SNPdbe | rs34997054 |
MSV3d | rs34997054 |
GWAS Ctlg | rs34997054 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34997054(T;T) |
Alt | rs34997054(T;T) |
Reference | Rs34997054(C;C) |
Significance | Other |
Disease | not specified Inborn genetic diseases |
Variation | info |
Gene | DYSF |
CLNDBN | not specified Inborn genetic diseases |
Reversed | 1 |
HGVS | NC_000002.11:g.71738977G>A |
CLNSRC | |
CLNACC | RCV000080277.9, RCV000210633.1, |