rs121434338
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs121434338(A;G) |
Make rs121434338(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 60822627 |
Gene | CHD7 |
is a | snp |
is | mentioned by |
dbSNP | rs121434338 |
dbSNP (classic) | rs121434338 |
ClinGen | rs121434338 |
ebi | rs121434338 |
HLI | rs121434338 |
Exac | rs121434338 |
Gnomad | rs121434338 |
Varsome | rs121434338 |
LitVar | rs121434338 |
Map | rs121434338 |
PheGenI | rs121434338 |
Biobank | rs121434338 |
1000 genomes | rs121434338 |
hgdp | rs121434338 |
ensembl | rs121434338 |
geneview | rs121434338 |
scholar | rs121434338 |
rs121434338 | |
pharmgkb | rs121434338 |
gwascentral | rs121434338 |
openSNP | rs121434338 |
23andMe | rs121434338 |
SNPshot | rs121434338 |
SNPdbe | rs121434338 |
MSV3d | rs121434338 |
GWAS Ctlg | rs121434338 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121434338(G;G) |
Alt | rs121434338(G;G) |
Reference | Rs121434338(A;A) |
Significance | Pathogenic |
Disease | CHARGE association not provided |
Variation | info |
Gene | CHD7 |
CLNDBN | CHARGE association not provided |
Reversed | 0 |
HGVS | NC_000008.10:g.61735186A>G |
CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000002100.4, RCV000081828.5, |