rs199469468
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs199469468(-;C) |
Make rs199469468(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 30737356 |
Gene | SRCAP |
is a | snp |
is | mentioned by |
dbSNP | rs199469468 |
dbSNP (classic) | rs199469468 |
ClinGen | rs199469468 |
ebi | rs199469468 |
HLI | rs199469468 |
Exac | rs199469468 |
Gnomad | rs199469468 |
Varsome | rs199469468 |
LitVar | rs199469468 |
Map | rs199469468 |
PheGenI | rs199469468 |
Biobank | rs199469468 |
1000 genomes | rs199469468 |
hgdp | rs199469468 |
ensembl | rs199469468 |
geneview | rs199469468 |
scholar | rs199469468 |
rs199469468 | |
pharmgkb | rs199469468 |
gwascentral | rs199469468 |
openSNP | rs199469468 |
23andMe | rs199469468 |
SNPshot | rs199469468 |
SNPdbe | rs199469468 |
MSV3d | rs199469468 |
GWAS Ctlg | rs199469468 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199469468(C;C) |
Alt | rs199469468(C;C) |
Reference | Rs199469468(;) |
Significance | Pathogenic |
Disease | Floating-Harbor syndrome |
Variation | info |
Gene | SRCAP |
CLNDBN | Floating-Harbor syndrome |
Reversed | 0 |
HGVS | NC_000016.9:g.30748677dupC |
CLNSRC | |
CLNACC |