rs587776967
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(T;T) | 0 | common in clinvar |
Make rs587776967(A;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 123084529 |
Gene | CLMP |
is a | snp |
is | mentioned by |
dbSNP | rs587776967 |
dbSNP (classic) | rs587776967 |
ClinGen | rs587776967 |
ebi | rs587776967 |
HLI | rs587776967 |
Exac | rs587776967 |
Gnomad | rs587776967 |
Varsome | rs587776967 |
LitVar | rs587776967 |
Map | rs587776967 |
PheGenI | rs587776967 |
Biobank | rs587776967 |
1000 genomes | rs587776967 |
hgdp | rs587776967 |
ensembl | rs587776967 |
geneview | rs587776967 |
scholar | rs587776967 |
rs587776967 | |
pharmgkb | rs587776967 |
gwascentral | rs587776967 |
openSNP | rs587776967 |
23andMe | rs587776967 |
SNPshot | rs587776967 |
SNPdbe | rs587776967 |
MSV3d | rs587776967 |
GWAS Ctlg | rs587776967 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs587776967(A;A) |
Alt | Rs587776967(A;A) |
Reference | Rs587776967(T;T) |
Significance | Pathogenic |
Disease | Congenital short bowel syndrome |
Variation | info |
Gene | CLMP |
CLNDBN | Congenital short bowel syndrome |
Reversed | 1 |
HGVS | NC_000011.9:g.122955237A>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000043527.6, |