rs121908974
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121908974(A;A) |
Make rs121908974(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 89958760 |
Gene | NBN |
is a | snp |
is | mentioned by |
dbSNP | rs121908974 |
dbSNP (classic) | rs121908974 |
ClinGen | rs121908974 |
ebi | rs121908974 |
HLI | rs121908974 |
Exac | rs121908974 |
Gnomad | rs121908974 |
Varsome | rs121908974 |
LitVar | rs121908974 |
Map | rs121908974 |
PheGenI | rs121908974 |
Biobank | rs121908974 |
1000 genomes | rs121908974 |
hgdp | rs121908974 |
ensembl | rs121908974 |
geneview | rs121908974 |
scholar | rs121908974 |
rs121908974 | |
pharmgkb | rs121908974 |
gwascentral | rs121908974 |
openSNP | rs121908974 |
23andMe | rs121908974 |
SNPshot | rs121908974 |
SNPdbe | rs121908974 |
MSV3d | rs121908974 |
GWAS Ctlg | rs121908974 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908974(A;A) rs121908974(T;T) |
Alt | rs121908974(A;A) rs121908974(T;T) |
Reference | Rs121908974(C;C) |
Significance | Other |
Disease | Hereditary cancer-predisposing syndrome Microcephaly not specified |
Variation | info |
Gene | NBN |
CLNDBN | Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency not specified |
Reversed | 1 |
HGVS | NC_000008.10:g.90970988G>A; NC_000008.10:g.90970988G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000160770.5, RCV000196191.4, RCV000212742.3, RCV000007362.3, |