rs387906871
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs387906871(A;A) |
Make rs387906871(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 66003284 |
Gene | BANF1, EIF1AD |
is a | snp |
is | mentioned by |
dbSNP | rs387906871 |
dbSNP (classic) | rs387906871 |
ClinGen | rs387906871 |
ebi | rs387906871 |
HLI | rs387906871 |
Exac | rs387906871 |
Gnomad | rs387906871 |
Varsome | rs387906871 |
LitVar | rs387906871 |
Map | rs387906871 |
PheGenI | rs387906871 |
Biobank | rs387906871 |
1000 genomes | rs387906871 |
hgdp | rs387906871 |
ensembl | rs387906871 |
geneview | rs387906871 |
scholar | rs387906871 |
rs387906871 | |
pharmgkb | rs387906871 |
gwascentral | rs387906871 |
openSNP | rs387906871 |
23andMe | rs387906871 |
SNPshot | rs387906871 |
SNPdbe | rs387906871 |
MSV3d | rs387906871 |
GWAS Ctlg | rs387906871 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906871(A;A) |
Alt | rs387906871(A;A) |
Reference | Rs387906871(G;G) |
Significance | Pathogenic |
Disease | Nestor-Guillermo progeria syndrome |
Variation | info |
Gene | BANF1 EIF1AD |
CLNDBN | Nestor-Guillermo progeria syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.65770755G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000023343.2, |