rs121918300
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs121918300(A;A) |
Make rs121918300(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 37888306 |
Gene | NME8 |
is a | snp |
is | mentioned by |
dbSNP | rs121918300 |
dbSNP (classic) | rs121918300 |
ClinGen | rs121918300 |
ebi | rs121918300 |
HLI | rs121918300 |
Exac | rs121918300 |
Gnomad | rs121918300 |
Varsome | rs121918300 |
LitVar | rs121918300 |
Map | rs121918300 |
PheGenI | rs121918300 |
Biobank | rs121918300 |
1000 genomes | rs121918300 |
hgdp | rs121918300 |
ensembl | rs121918300 |
geneview | rs121918300 |
scholar | rs121918300 |
rs121918300 | |
pharmgkb | rs121918300 |
gwascentral | rs121918300 |
openSNP | rs121918300 |
23andMe | rs121918300 |
SNPshot | rs121918300 |
SNPdbe | rs121918300 |
MSV3d | rs121918300 |
GWAS Ctlg | rs121918300 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918300(A;A) rs121918300(C;C) |
Alt | rs121918300(A;A) rs121918300(C;C) |
Reference | Rs121918300(T;T) |
Significance | Pathogenic |
Disease | Ciliary dyskinesia |
Variation | info |
Gene | NME8 |
CLNDBN | Ciliary dyskinesia, primary, 6 |
Reversed | 0 |
HGVS | NC_000007.13:g.37927908T>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003412.4, |