rs71647808
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs71647808(G;T) |
Make rs71647808(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 89776664 |
Gene | MESP2 |
is a | snp |
is | mentioned by |
dbSNP | rs71647808 |
dbSNP (classic) | rs71647808 |
ClinGen | rs71647808 |
ebi | rs71647808 |
HLI | rs71647808 |
Exac | rs71647808 |
Gnomad | rs71647808 |
Varsome | rs71647808 |
LitVar | rs71647808 |
Map | rs71647808 |
PheGenI | rs71647808 |
Biobank | rs71647808 |
1000 genomes | rs71647808 |
hgdp | rs71647808 |
ensembl | rs71647808 |
geneview | rs71647808 |
scholar | rs71647808 |
rs71647808 | |
pharmgkb | rs71647808 |
gwascentral | rs71647808 |
openSNP | rs71647808 |
23andMe | rs71647808 |
SNPshot | rs71647808 |
SNPdbe | rs71647808 |
MSV3d | rs71647808 |
GWAS Ctlg | rs71647808 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs71647808(A;A) rs71647808(C;C) rs71647808(T;T) |
Alt | rs71647808(A;A) rs71647808(C;C) rs71647808(T;T) |
Reference | Rs71647808(G;G) |
Significance | Pathogenic |
Disease | Spondylocostal dysostosis 2 |
Variation | info |
Gene | MESP2 |
CLNDBN | Spondylocostal dysostosis 2 |
Reversed | 0 |
HGVS | NC_000015.9:g.90319895G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005493.6, |