rs797046015
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs797046015(G;G) |
Make rs797046015(G;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 73860046 |
Gene | STAMBP |
is a | snp |
is | mentioned by |
dbSNP | rs797046015 |
dbSNP (classic) | rs797046015 |
ClinGen | rs797046015 |
ebi | rs797046015 |
HLI | rs797046015 |
Exac | rs797046015 |
Gnomad | rs797046015 |
Varsome | rs797046015 |
LitVar | rs797046015 |
Map | rs797046015 |
PheGenI | rs797046015 |
Biobank | rs797046015 |
1000 genomes | rs797046015 |
hgdp | rs797046015 |
ensembl | rs797046015 |
geneview | rs797046015 |
scholar | rs797046015 |
rs797046015 | |
pharmgkb | rs797046015 |
gwascentral | rs797046015 |
openSNP | rs797046015 |
23andMe | rs797046015 |
SNPshot | rs797046015 |
SNPdbe | rs797046015 |
MSV3d | rs797046015 |
GWAS Ctlg | rs797046015 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797046015(G;G) |
Alt | rs797046015(G;G) |
Reference | Rs797046015(T;T) |
Significance | Probable-Pathogenic |
Disease | Microcephaly-capillary malformation syndrome |
Variation | info |
Gene | STAMBP |
CLNDBN | Microcephaly-capillary malformation syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.74087173T>G |
CLNSRC | |
CLNACC | RCV000192826.1, |