rs769677823
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs769677823(C;G) |
Make rs769677823(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 15 |
Position | 63623777 |
Gene | HERC1 |
is a | snp |
is | mentioned by |
dbSNP | rs769677823 |
dbSNP (classic) | rs769677823 |
ClinGen | rs769677823 |
ebi | rs769677823 |
HLI | rs769677823 |
Exac | rs769677823 |
Gnomad | rs769677823 |
Varsome | rs769677823 |
LitVar | rs769677823 |
Map | rs769677823 |
PheGenI | rs769677823 |
Biobank | rs769677823 |
1000 genomes | rs769677823 |
hgdp | rs769677823 |
ensembl | rs769677823 |
geneview | rs769677823 |
scholar | rs769677823 |
rs769677823 | |
pharmgkb | rs769677823 |
gwascentral | rs769677823 |
openSNP | rs769677823 |
23andMe | rs769677823 |
SNPshot | rs769677823 |
SNPdbe | rs769677823 |
MSV3d | rs769677823 |
GWAS Ctlg | rs769677823 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs769677823(G;G) rs769677823(T;T) |
Alt | rs769677823(G;G) rs769677823(T;T) |
Reference | Rs769677823(C;C) |
Significance | Pathogenic |
Disease | Macrocephaly |
Variation | info |
Gene | HERC1 |
CLNDBN | Macrocephaly, dysmorphic facies, and psychomotor retardation |
Reversed | 0 |
HGVS | NC_000015.9:g.63915976C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000235003.2, |