rs138495705
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs138495705(C;T) |
Make rs138495705(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 75579445 |
Gene | FLVCR2, LOC102724153 |
is a | snp |
is | mentioned by |
dbSNP | rs138495705 |
dbSNP (classic) | rs138495705 |
ClinGen | rs138495705 |
ebi | rs138495705 |
HLI | rs138495705 |
Exac | rs138495705 |
Gnomad | rs138495705 |
Varsome | rs138495705 |
LitVar | rs138495705 |
Map | rs138495705 |
PheGenI | rs138495705 |
Biobank | rs138495705 |
1000 genomes | rs138495705 |
hgdp | rs138495705 |
ensembl | rs138495705 |
geneview | rs138495705 |
scholar | rs138495705 |
rs138495705 | |
pharmgkb | rs138495705 |
gwascentral | rs138495705 |
openSNP | rs138495705 |
23andMe | rs138495705 |
SNPshot | rs138495705 |
SNPdbe | rs138495705 |
MSV3d | rs138495705 |
GWAS Ctlg | rs138495705 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs138495705(A;A) rs138495705(T;T) |
Alt | rs138495705(A;A) rs138495705(T;T) |
Reference | Rs138495705(C;C) |
Significance | Pathogenic |
Disease | Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome |
Variation | info |
Gene | LOC102724153 FLVCR2 |
CLNDBN | Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome |
Reversed | 0 |
HGVS | NC_000014.8:g.76045788C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001148.3, |