rs121912547
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121912547(A;A) |
Make rs121912547(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 157009859 |
Gene | MNX1, MNX1-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs121912547 |
dbSNP (classic) | rs121912547 |
ClinGen | rs121912547 |
ebi | rs121912547 |
HLI | rs121912547 |
Exac | rs121912547 |
Gnomad | rs121912547 |
Varsome | rs121912547 |
LitVar | rs121912547 |
Map | rs121912547 |
PheGenI | rs121912547 |
Biobank | rs121912547 |
1000 genomes | rs121912547 |
hgdp | rs121912547 |
ensembl | rs121912547 |
geneview | rs121912547 |
scholar | rs121912547 |
rs121912547 | |
pharmgkb | rs121912547 |
gwascentral | rs121912547 |
openSNP | rs121912547 |
23andMe | rs121912547 |
SNPshot | rs121912547 |
SNPdbe | rs121912547 |
MSV3d | rs121912547 |
GWAS Ctlg | rs121912547 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121912547(A;A) |
Alt | rs121912547(A;A) |
Reference | Rs121912547(C;C) |
Significance | Pathogenic |
Disease | Currarino triad |
Variation | info |
Gene | MNX1-AS1 MNX1 |
CLNDBN | Currarino triad |
Reversed | 1 |
HGVS | NC_000007.13:g.156802553G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000015978.25, |