rs398124538
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GC;GC) | 0 | common in clinvar |
Make rs398124538(GC;TA) |
Make rs398124538(TA;TA) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 17223929 |
Gene | FLCN |
is a | snp |
is | mentioned by |
dbSNP | rs398124538 |
dbSNP (classic) | rs398124538 |
ClinGen | rs398124538 |
ebi | rs398124538 |
HLI | rs398124538 |
Exac | rs398124538 |
Gnomad | rs398124538 |
Varsome | rs398124538 |
LitVar | rs398124538 |
Map | rs398124538 |
PheGenI | rs398124538 |
Biobank | rs398124538 |
1000 genomes | rs398124538 |
hgdp | rs398124538 |
ensembl | rs398124538 |
geneview | rs398124538 |
scholar | rs398124538 |
rs398124538 | |
pharmgkb | rs398124538 |
gwascentral | rs398124538 |
openSNP | rs398124538 |
23andMe | rs398124538 |
SNPshot | rs398124538 |
SNPdbe | rs398124538 |
MSV3d | rs398124538 |
GWAS Ctlg | rs398124538 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398124538(TA;TA) |
Alt | rs398124538(TA;TA) |
Reference | Rs398124538(GC;GC) |
Significance | Pathogenic |
Disease | not provided Multiple fibrofolliculomas |
Variation | info |
Gene | FLCN |
CLNDBN | not provided Multiple fibrofolliculomas |
Reversed | 1 |
HGVS | NC_000017.10:g.17127243_17127244delGCinsTA |
CLNSRC | HGMD |
CLNACC | RCV000082640.4, RCV000133394.3, |