rs267607062
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs267607062(A;C) |
Make rs267607062(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 67053821 |
Gene | SLC35D1 |
is a | snp |
is | mentioned by |
dbSNP | rs267607062 |
dbSNP (classic) | rs267607062 |
ClinGen | rs267607062 |
ebi | rs267607062 |
HLI | rs267607062 |
Exac | rs267607062 |
Gnomad | rs267607062 |
Varsome | rs267607062 |
LitVar | rs267607062 |
Map | rs267607062 |
PheGenI | rs267607062 |
Biobank | rs267607062 |
1000 genomes | rs267607062 |
hgdp | rs267607062 |
ensembl | rs267607062 |
geneview | rs267607062 |
scholar | rs267607062 |
rs267607062 | |
pharmgkb | rs267607062 |
gwascentral | rs267607062 |
openSNP | rs267607062 |
23andMe | rs267607062 |
SNPshot | rs267607062 |
SNPdbe | rs267607062 |
MSV3d | rs267607062 |
GWAS Ctlg | rs267607062 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267607062(C;C) rs267607062(G;G) |
Alt | rs267607062(C;C) rs267607062(G;G) |
Reference | Rs267607062(A;A) |
Significance | Pathogenic |
Disease | Schneckenbecken dysplasia |
Variation | info |
Gene | SLC35D1 |
CLNDBN | Schneckenbecken dysplasia |
Reversed | 1 |
HGVS | NC_000001.10:g.67519504T>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001188.2, |