rs143739249
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs143739249(C;T) |
Make rs143739249(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 73830968 |
Gene | LOC105374807, STAMBP |
is a | snp |
is | mentioned by |
dbSNP | rs143739249 |
dbSNP (classic) | rs143739249 |
ClinGen | rs143739249 |
ebi | rs143739249 |
HLI | rs143739249 |
Exac | rs143739249 |
Gnomad | rs143739249 |
Varsome | rs143739249 |
LitVar | rs143739249 |
Map | rs143739249 |
PheGenI | rs143739249 |
Biobank | rs143739249 |
1000 genomes | rs143739249 |
hgdp | rs143739249 |
ensembl | rs143739249 |
geneview | rs143739249 |
scholar | rs143739249 |
rs143739249 | |
pharmgkb | rs143739249 |
gwascentral | rs143739249 |
openSNP | rs143739249 |
23andMe | rs143739249 |
SNPshot | rs143739249 |
SNPdbe | rs143739249 |
MSV3d | rs143739249 |
GWAS Ctlg | rs143739249 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs143739249(T;T) |
Alt | rs143739249(T;T) |
Reference | Rs143739249(C;C) |
Significance | Pathogenic |
Disease | Microcephaly-capillary malformation syndrome not provided |
Variation | info |
Gene | STAMBP |
CLNDBN | Microcephaly-capillary malformation syndrome not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.74058095C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000043574.7, RCV000426675.1, |