rs747680111
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs747680111(-;-) |
Make rs747680111(-;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 14 |
Position | 50758548 |
Gene | NIN |
is a | snp |
is | mentioned by |
dbSNP | rs747680111 |
dbSNP (classic) | rs747680111 |
ClinGen | rs747680111 |
ebi | rs747680111 |
HLI | rs747680111 |
Exac | rs747680111 |
Gnomad | rs747680111 |
Varsome | rs747680111 |
LitVar | rs747680111 |
Map | rs747680111 |
PheGenI | rs747680111 |
Biobank | rs747680111 |
1000 genomes | rs747680111 |
hgdp | rs747680111 |
ensembl | rs747680111 |
geneview | rs747680111 |
scholar | rs747680111 |
rs747680111 | |
pharmgkb | rs747680111 |
gwascentral | rs747680111 |
openSNP | rs747680111 |
23andMe | rs747680111 |
SNPshot | rs747680111 |
SNPdbe | rs747680111 |
MSV3d | rs747680111 |
GWAS Ctlg | rs747680111 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs747680111(-;-) |
Alt | rs747680111(-;-) |
Reference | Rs747680111(T;T) |
Significance | Pathogenic |
Disease | Seckel syndrome 7 |
Variation | info |
Gene | NIN |
CLNDBN | Seckel syndrome 7 |
Reversed | 0 |
HGVS | NC_000014.8:g.51225266delT |
CLNSRC | |
CLNACC | RCV000194344.1, |