rs879253979
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs879253979(C;G) |
Make rs879253979(G;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 14 |
Position | 101979951 |
Gene | DYNC1H1 |
is a | snp |
is | mentioned by |
dbSNP | rs879253979 |
dbSNP (classic) | rs879253979 |
ClinGen | rs879253979 |
ebi | rs879253979 |
HLI | rs879253979 |
Exac | rs879253979 |
Gnomad | rs879253979 |
Varsome | rs879253979 |
LitVar | rs879253979 |
Map | rs879253979 |
PheGenI | rs879253979 |
Biobank | rs879253979 |
1000 genomes | rs879253979 |
hgdp | rs879253979 |
ensembl | rs879253979 |
geneview | rs879253979 |
scholar | rs879253979 |
rs879253979 | |
pharmgkb | rs879253979 |
gwascentral | rs879253979 |
openSNP | rs879253979 |
23andMe | rs879253979 |
SNPshot | rs879253979 |
SNPdbe | rs879253979 |
MSV3d | rs879253979 |
GWAS Ctlg | rs879253979 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879253979(G;G) rs879253979(T;T) |
Alt | rs879253979(G;G) rs879253979(T;T) |
Reference | Rs879253979(C;C) |
Significance | Probable-Pathogenic |
Disease | not specified Distal lower limb amyotrophy Hammertoe Myopathy Pes cavus |
Variation | info |
Gene | DYNC1H1 |
CLNDBN | not specified Distal lower limb amyotrophy Hammertoe Myopathy Pes cavus |
Reversed | 0 |
HGVS | NC_000014.8:g.102446288C>G; NC_000014.8:g.102446288C>T |
CLNSRC | |
CLNACC | RCV000235525.1, RCV000414974.1, |