rs746438011
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs746438011(A;T) |
Make rs746438011(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 6 |
Position | 152430672 |
Gene | SYNE1 |
is a | snp |
is | mentioned by |
dbSNP | rs746438011 |
dbSNP (classic) | rs746438011 |
ClinGen | rs746438011 |
ebi | rs746438011 |
HLI | rs746438011 |
Exac | rs746438011 |
Gnomad | rs746438011 |
Varsome | rs746438011 |
LitVar | rs746438011 |
Map | rs746438011 |
PheGenI | rs746438011 |
Biobank | rs746438011 |
1000 genomes | rs746438011 |
hgdp | rs746438011 |
ensembl | rs746438011 |
geneview | rs746438011 |
scholar | rs746438011 |
rs746438011 | |
pharmgkb | rs746438011 |
gwascentral | rs746438011 |
openSNP | rs746438011 |
23andMe | rs746438011 |
SNPshot | rs746438011 |
SNPdbe | rs746438011 |
MSV3d | rs746438011 |
GWAS Ctlg | rs746438011 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs746438011(G;G) rs746438011(T;T) |
Alt | rs746438011(G;G) rs746438011(T;T) |
Reference | Rs746438011(A;A) |
Significance | Probable-Pathogenic |
Disease | Emery-Dreifuss muscular dystrophy 4 |
Variation | info |
Gene | SYNE1 |
CLNDBN | Emery-Dreifuss muscular dystrophy 4, autosomal dominant |
Reversed | 0 |
HGVS | NC_000006.11:g.152751807A>T |
CLNSRC | |
CLNACC | RCV000190464.1, |