rs36215895
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs36215895(C;T) |
Make rs36215895(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 64210033 |
Gene | SYNE2 |
is a | snp |
is | mentioned by |
dbSNP | rs36215895 |
dbSNP (classic) | rs36215895 |
ClinGen | rs36215895 |
ebi | rs36215895 |
HLI | rs36215895 |
Exac | rs36215895 |
Gnomad | rs36215895 |
Varsome | rs36215895 |
LitVar | rs36215895 |
Map | rs36215895 |
PheGenI | rs36215895 |
Biobank | rs36215895 |
1000 genomes | rs36215895 |
hgdp | rs36215895 |
ensembl | rs36215895 |
geneview | rs36215895 |
scholar | rs36215895 |
rs36215895 | |
pharmgkb | rs36215895 |
gwascentral | rs36215895 |
openSNP | rs36215895 |
23andMe | rs36215895 |
SNPshot | rs36215895 |
SNPdbe | rs36215895 |
MSV3d | rs36215895 |
GWAS Ctlg | rs36215895 |
GMAF | 0.005051 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs36215895(G;G) rs36215895(T;T) |
Alt | rs36215895(G;G) rs36215895(T;T) |
Reference | Rs36215895(C;C) |
Significance | Other |
Disease | Emery-Dreifuss muscular dystrophy 5 not specified Emery-Dreifuss muscular dystrophy |
Variation | info |
Gene | SYNE2 |
CLNDBN | Emery-Dreifuss muscular dystrophy 5, autosomal dominant not specified Emery-Dreifuss muscular dystrophy |
Reversed | 0 |
HGVS | NC_000014.8:g.64676751C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000002414.4, RCV000173937.3, RCV000403391.1, |