rs587777367
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(G;G) | 0 | common in clinvar |
Make rs587777367(A;A) |
Make rs587777367(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 16 |
Position | 17134708 |
Gene | LOC102723692, XYLT1 |
is a | snp |
is | mentioned by |
dbSNP | rs587777367 |
dbSNP (classic) | rs587777367 |
ClinGen | rs587777367 |
ebi | rs587777367 |
HLI | rs587777367 |
Exac | rs587777367 |
Gnomad | rs587777367 |
Varsome | rs587777367 |
LitVar | rs587777367 |
Map | rs587777367 |
PheGenI | rs587777367 |
Biobank | rs587777367 |
1000 genomes | rs587777367 |
hgdp | rs587777367 |
ensembl | rs587777367 |
geneview | rs587777367 |
scholar | rs587777367 |
rs587777367 | |
pharmgkb | rs587777367 |
gwascentral | rs587777367 |
openSNP | rs587777367 |
23andMe | rs587777367 |
SNPshot | rs587777367 |
SNPdbe | rs587777367 |
MSV3d | rs587777367 |
GWAS Ctlg | rs587777367 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777367(A;A) Rs587777367(G;G) |
Alt | rs587777367(A;A) Rs587777367(G;G) |
Reference | Rs587777367(C;C) |
Significance | Pathogenic |
Disease | Desbuquois dysplasia 2 |
Variation | info |
Gene | LOC102723692 XYLT1 |
CLNDBN | Desbuquois dysplasia 2 |
Reversed | 1 |
HGVS | NC_000016.9:g.17228565G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000115034.2, |