rs199469465
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs199469465(C;T) |
Make rs199469465(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 30737343 |
Gene | SRCAP |
is a | snp |
is | mentioned by |
dbSNP | rs199469465 |
dbSNP (classic) | rs199469465 |
ClinGen | rs199469465 |
ebi | rs199469465 |
HLI | rs199469465 |
Exac | rs199469465 |
Gnomad | rs199469465 |
Varsome | rs199469465 |
LitVar | rs199469465 |
Map | rs199469465 |
PheGenI | rs199469465 |
Biobank | rs199469465 |
1000 genomes | rs199469465 |
hgdp | rs199469465 |
ensembl | rs199469465 |
geneview | rs199469465 |
scholar | rs199469465 |
rs199469465 | |
pharmgkb | rs199469465 |
gwascentral | rs199469465 |
openSNP | rs199469465 |
23andMe | rs199469465 |
SNPshot | rs199469465 |
SNPdbe | rs199469465 |
MSV3d | rs199469465 |
GWAS Ctlg | rs199469465 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199469465(T;T) |
Alt | rs199469465(T;T) |
Reference | Rs199469465(C;C) |
Significance | Pathogenic |
Disease | Floating-Harbor syndrome not provided |
Variation | info |
Gene | SRCAP |
CLNDBN | Floating-Harbor syndrome not provided |
Reversed | 0 |
HGVS | NC_000016.9:g.30748664C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000023896.5, RCV000299481.1, |