rs886037954
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs886037954(A;T) |
Make rs886037954(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 2 |
Position | 28783934 |
Gene | PPP1CB |
is a | snp |
is | mentioned by |
dbSNP | rs886037954 |
dbSNP (classic) | rs886037954 |
ClinGen | rs886037954 |
ebi | rs886037954 |
HLI | rs886037954 |
Exac | rs886037954 |
Gnomad | rs886037954 |
Varsome | rs886037954 |
LitVar | rs886037954 |
Map | rs886037954 |
PheGenI | rs886037954 |
Biobank | rs886037954 |
1000 genomes | rs886037954 |
hgdp | rs886037954 |
ensembl | rs886037954 |
geneview | rs886037954 |
scholar | rs886037954 |
rs886037954 | |
pharmgkb | rs886037954 |
gwascentral | rs886037954 |
openSNP | rs886037954 |
23andMe | rs886037954 |
SNPshot | rs886037954 |
SNPdbe | rs886037954 |
MSV3d | rs886037954 |
GWAS Ctlg | rs886037954 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886037954(C;C) rs886037954(T;T) |
Alt | rs886037954(C;C) rs886037954(T;T) |
Reference | Rs886037954(A;A) |
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.29006800A>C; NC_000002.11:g.29006800A>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000257936.1, RCV000490621.1, RCV000257978.1, RCV000490623.1, |