rs3120649
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs3120649(A;A) |
Make rs3120649(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 152311335 |
Gene | FLG |
is a | snp |
is | mentioned by |
dbSNP | rs3120649 |
dbSNP (classic) | rs3120649 |
ClinGen | rs3120649 |
ebi | rs3120649 |
HLI | rs3120649 |
Exac | rs3120649 |
Gnomad | rs3120649 |
Varsome | rs3120649 |
LitVar | rs3120649 |
Map | rs3120649 |
PheGenI | rs3120649 |
Biobank | rs3120649 |
1000 genomes | rs3120649 |
hgdp | rs3120649 |
ensembl | rs3120649 |
geneview | rs3120649 |
scholar | rs3120649 |
rs3120649 | |
pharmgkb | rs3120649 |
gwascentral | rs3120649 |
openSNP | rs3120649 |
23andMe | rs3120649 |
SNPshot | rs3120649 |
SNPdbe | rs3120649 |
MSV3d | rs3120649 |
GWAS Ctlg | rs3120649 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs3120649(A;A) rs3120649(T;T) |
Alt | rs3120649(A;A) rs3120649(T;T) |
Reference | Rs3120649(G;G) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | FLG |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.152283811G>T |
CLNSRC | |
CLNACC | RCV000483623.1, |