rs143149764
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs143149764(A;G) |
Make rs143149764(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 19347782 |
Gene | B9D1 |
is a | snp |
is | mentioned by |
dbSNP | rs143149764 |
dbSNP (classic) | rs143149764 |
ClinGen | rs143149764 |
ebi | rs143149764 |
HLI | rs143149764 |
Exac | rs143149764 |
Gnomad | rs143149764 |
Varsome | rs143149764 |
LitVar | rs143149764 |
Map | rs143149764 |
PheGenI | rs143149764 |
Biobank | rs143149764 |
1000 genomes | rs143149764 |
hgdp | rs143149764 |
ensembl | rs143149764 |
geneview | rs143149764 |
scholar | rs143149764 |
rs143149764 | |
pharmgkb | rs143149764 |
gwascentral | rs143149764 |
openSNP | rs143149764 |
23andMe | rs143149764 |
SNPshot | rs143149764 |
SNPdbe | rs143149764 |
MSV3d | rs143149764 |
GWAS Ctlg | rs143149764 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs143149764(G;G) |
Alt | rs143149764(G;G) |
Reference | Rs143149764(A;A) |
Significance | Pathogenic |
Disease | Meckel syndrome not provided |
Variation | info |
Gene | B9D1 |
CLNDBN | Meckel syndrome, type 9 not provided |
Reversed | 0 |
HGVS | NC_000017.10:g.19251095A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000024098.5, RCV000049798.1, |
[PMID 21493627] B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis.