rs387906660
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs387906660(C;T) |
Make rs387906660(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 140801550 |
Gene | BRAF |
is a | snp |
is | mentioned by |
dbSNP | rs387906660 |
dbSNP (classic) | rs387906660 |
ClinGen | rs387906660 |
ebi | rs387906660 |
HLI | rs387906660 |
Exac | rs387906660 |
Gnomad | rs387906660 |
Varsome | rs387906660 |
LitVar | rs387906660 |
Map | rs387906660 |
PheGenI | rs387906660 |
Biobank | rs387906660 |
1000 genomes | rs387906660 |
hgdp | rs387906660 |
ensembl | rs387906660 |
geneview | rs387906660 |
scholar | rs387906660 |
rs387906660 | |
pharmgkb | rs387906660 |
gwascentral | rs387906660 |
openSNP | rs387906660 |
23andMe | rs387906660 |
SNPshot | rs387906660 |
SNPdbe | rs387906660 |
MSV3d | rs387906660 |
GWAS Ctlg | rs387906660 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906660(A;A) rs387906660(G;G) rs387906660(T;T) |
Alt | rs387906660(A;A) rs387906660(G;G) rs387906660(T;T) |
Reference | Rs387906660(C;C) |
Significance | Pathogenic |
Disease | Noonan syndrome 7 not provided Noonan syndrome 1 Noonan syndrome |
Variation | info |
Gene | BRAF |
CLNDBN | Noonan syndrome 7 not provided Noonan syndrome 1 Noonan syndrome |
Reversed | 1 |
HGVS | NC_000007.13:g.140501350G>A; NC_000007.13:g.140501350G>C; NC_000007.13:g.140501350G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000022678.29, RCV000033281.5, RCV000208540.1, RCV000211753.1, RCV000022679.27, RCV000208548.1, RCV000037953.3, |