rs587776955
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs587776955(A;A) |
Make rs587776955(A;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 12 |
Position | 6944575 |
Gene | C12orf57 |
is a | snp |
is | mentioned by |
dbSNP | rs587776955 |
dbSNP (classic) | rs587776955 |
ClinGen | rs587776955 |
ebi | rs587776955 |
HLI | rs587776955 |
Exac | rs587776955 |
Gnomad | rs587776955 |
Varsome | rs587776955 |
LitVar | rs587776955 |
Map | rs587776955 |
PheGenI | rs587776955 |
Biobank | rs587776955 |
1000 genomes | rs587776955 |
hgdp | rs587776955 |
ensembl | rs587776955 |
geneview | rs587776955 |
scholar | rs587776955 |
rs587776955 | |
pharmgkb | rs587776955 |
gwascentral | rs587776955 |
openSNP | rs587776955 |
23andMe | rs587776955 |
SNPshot | rs587776955 |
SNPdbe | rs587776955 |
MSV3d | rs587776955 |
GWAS Ctlg | rs587776955 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776955(A;A) |
Alt | rs587776955(A;A) |
Reference | Rs587776955(T;T) |
Significance | Pathogenic |
Disease | Temtamy syndrome |
Variation | info |
Gene | C12orf57 |
CLNDBN | Temtamy syndrome |
Reversed | 0 |
HGVS | NC_000012.12:g.6944575T>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000034853.3, |