rs281875187
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs281875187(G;T) |
Make rs281875187(T;T) |
Reference | GRCh37.p10 37.5/138 |
Chromosome | 9 |
Position | 2115841 |
Gene | SMARCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs281875187 |
dbSNP (classic) | rs281875187 |
ClinGen | rs281875187 |
ebi | rs281875187 |
HLI | rs281875187 |
Exac | rs281875187 |
Gnomad | rs281875187 |
Varsome | rs281875187 |
LitVar | rs281875187 |
Map | rs281875187 |
PheGenI | rs281875187 |
Biobank | rs281875187 |
1000 genomes | rs281875187 |
hgdp | rs281875187 |
ensembl | rs281875187 |
geneview | rs281875187 |
scholar | rs281875187 |
rs281875187 | |
pharmgkb | rs281875187 |
gwascentral | rs281875187 |
openSNP | rs281875187 |
23andMe | rs281875187 |
SNPshot | rs281875187 |
SNPdbe | rs281875187 |
MSV3d | rs281875187 |
GWAS Ctlg | rs281875187 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs281875187(A;A) rs281875187(T;T) |
Alt | rs281875187(A;A) rs281875187(T;T) |
Reference | Rs281875187(G;G) |
Significance | Pathogenic |
Disease | Nicolaides-Baraitser syndrome not provided |
Variation | info |
Gene | SMARCA2 |
CLNDBN | Nicolaides-Baraitser syndrome not provided |
Reversed | 0 |
HGVS | NC_000009.11:g.2115841G>A; NC_000009.11:g.2115841G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants) |
CLNACC | RCV000022910.2, RCV000059676.1, RCV000022915.2, RCV000059677.1, |
[PMID 22366787] Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.