rs886037955
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs886037955(A;A) |
Make rs886037955(A;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 2 |
Position | 28793938 |
Gene | PPP1CB |
is a | snp |
is | mentioned by |
dbSNP | rs886037955 |
dbSNP (classic) | rs886037955 |
ClinGen | rs886037955 |
ebi | rs886037955 |
HLI | rs886037955 |
Exac | rs886037955 |
Gnomad | rs886037955 |
Varsome | rs886037955 |
LitVar | rs886037955 |
Map | rs886037955 |
PheGenI | rs886037955 |
Biobank | rs886037955 |
1000 genomes | rs886037955 |
hgdp | rs886037955 |
ensembl | rs886037955 |
geneview | rs886037955 |
scholar | rs886037955 |
rs886037955 | |
pharmgkb | rs886037955 |
gwascentral | rs886037955 |
openSNP | rs886037955 |
23andMe | rs886037955 |
SNPshot | rs886037955 |
SNPdbe | rs886037955 |
MSV3d | rs886037955 |
GWAS Ctlg | rs886037955 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886037955(A;A) |
Alt | rs886037955(A;A) |
Reference | Rs886037955(G;G) |
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.29016804G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000257961.1, RCV000490625.1, |