rs397514697
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs397514697(A;A) |
Make rs397514697(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 73845186 |
Gene | LOC105374806, STAMBP |
is a | snp |
is | mentioned by |
dbSNP | rs397514697 |
dbSNP (classic) | rs397514697 |
ClinGen | rs397514697 |
ebi | rs397514697 |
HLI | rs397514697 |
Exac | rs397514697 |
Gnomad | rs397514697 |
Varsome | rs397514697 |
LitVar | rs397514697 |
Map | rs397514697 |
PheGenI | rs397514697 |
Biobank | rs397514697 |
1000 genomes | rs397514697 |
hgdp | rs397514697 |
ensembl | rs397514697 |
geneview | rs397514697 |
scholar | rs397514697 |
rs397514697 | |
pharmgkb | rs397514697 |
gwascentral | rs397514697 |
openSNP | rs397514697 |
23andMe | rs397514697 |
SNPshot | rs397514697 |
SNPdbe | rs397514697 |
MSV3d | rs397514697 |
GWAS Ctlg | rs397514697 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397514697(A;A) |
Alt | rs397514697(A;A) |
Reference | Rs397514697(T;T) |
Significance | Pathogenic |
Disease | Microcephaly-capillary malformation syndrome |
Variation | info |
Gene | STAMBP |
CLNDBN | Microcephaly-capillary malformation syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.74072313T>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000043577.4, |