rs786200942
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TGGCCAGCA;TGGCCAGCA) | 0 | common in clinvar |
Make rs786200942(-;-) |
Make rs786200942(-;GGCCAGCAT) |
Make rs786200942(GGCCAGCAT;GGCCAGCAT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 1232693 |
Gene | B3GALT6, SDF4 |
is a | snp |
is | mentioned by |
dbSNP | rs786200942 |
dbSNP (classic) | rs786200942 |
ClinGen | rs786200942 |
ebi | rs786200942 |
HLI | rs786200942 |
Exac | rs786200942 |
Gnomad | rs786200942 |
Varsome | rs786200942 |
LitVar | rs786200942 |
Map | rs786200942 |
PheGenI | rs786200942 |
Biobank | rs786200942 |
1000 genomes | rs786200942 |
hgdp | rs786200942 |
ensembl | rs786200942 |
geneview | rs786200942 |
scholar | rs786200942 |
rs786200942 | |
pharmgkb | rs786200942 |
gwascentral | rs786200942 |
openSNP | rs786200942 |
23andMe | rs786200942 |
SNPshot | rs786200942 |
SNPdbe | rs786200942 |
MSV3d | rs786200942 |
GWAS Ctlg | rs786200942 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786200942(-;-) |
Alt | rs786200942(-;-) |
Reference | Rs786200942(TGGCCAGCA;TGGCCAGCA) |
Significance | Pathogenic |
Disease | Ehlers-Danlos syndrome |
Variation | info |
Gene | B3GALT6 SDF4 |
CLNDBN | Ehlers-Danlos syndrome, progeroid type, 2 |
Reversed | 1 |
HGVS | NC_000001.10:g.1168073_1168081delATGCTGGCC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000054400.4, |