rs886037952
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs886037952(C;G) |
Make rs886037952(G;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 2 |
Position | 28776944 |
Gene | PPP1CB |
is a | snp |
is | mentioned by |
dbSNP | rs886037952 |
dbSNP (classic) | rs886037952 |
ClinGen | rs886037952 |
ebi | rs886037952 |
HLI | rs886037952 |
Exac | rs886037952 |
Gnomad | rs886037952 |
Varsome | rs886037952 |
LitVar | rs886037952 |
Map | rs886037952 |
PheGenI | rs886037952 |
Biobank | rs886037952 |
1000 genomes | rs886037952 |
hgdp | rs886037952 |
ensembl | rs886037952 |
geneview | rs886037952 |
scholar | rs886037952 |
rs886037952 | |
pharmgkb | rs886037952 |
gwascentral | rs886037952 |
openSNP | rs886037952 |
23andMe | rs886037952 |
SNPshot | rs886037952 |
SNPdbe | rs886037952 |
MSV3d | rs886037952 |
GWAS Ctlg | rs886037952 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886037952(G;G) |
Alt | rs886037952(G;G) |
Reference | Rs886037952(C;C) |
Significance | Pathogenic |
Disease | not provided Noonan syndrome-like disorder with loose anagen hair 2 |
Variation | info |
Gene | PPP1CB |
CLNDBN | not provided Noonan syndrome-like disorder with loose anagen hair 2 |
Reversed | 0 |
HGVS | NC_000002.11:g.28999810C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000257986.1, RCV000490622.1, |