rs3777134
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs3777134(C;T) |
Make rs3777134(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 148118456 |
Gene | SPINK5 |
is a | snp |
is | mentioned by |
dbSNP | rs3777134 |
dbSNP (classic) | rs3777134 |
ClinGen | rs3777134 |
ebi | rs3777134 |
HLI | rs3777134 |
Exac | rs3777134 |
Gnomad | rs3777134 |
Varsome | rs3777134 |
LitVar | rs3777134 |
Map | rs3777134 |
PheGenI | rs3777134 |
Biobank | rs3777134 |
1000 genomes | rs3777134 |
hgdp | rs3777134 |
ensembl | rs3777134 |
geneview | rs3777134 |
scholar | rs3777134 |
rs3777134 | |
pharmgkb | rs3777134 |
gwascentral | rs3777134 |
openSNP | rs3777134 |
23andMe | rs3777134 |
SNPshot | rs3777134 |
SNPdbe | rs3777134 |
MSV3d | rs3777134 |
GWAS Ctlg | rs3777134 |
GMAF | 0.4936 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs3777134(T;T) |
Alt | rs3777134(T;T) |
Reference | Rs3777134(C;C) |
Significance | Non-pathogenic |
Disease | not specified Netherton syndrome |
Variation | info |
Gene | SPINK5 |
CLNDBN | not specified Netherton syndrome |
Reversed | 1 |
HGVS | NC_000005.9:g.147498019G>A |
CLNSRC | |
CLNACC | RCV000247596.1, RCV000338362.1, |