rs768047421
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs768047421(C;T) |
Make rs768047421(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 4 |
Position | 3131647 |
Gene | HTT |
is a | snp |
is | mentioned by |
dbSNP | rs768047421 |
dbSNP (classic) | rs768047421 |
ClinGen | rs768047421 |
ebi | rs768047421 |
HLI | rs768047421 |
Exac | rs768047421 |
Gnomad | rs768047421 |
Varsome | rs768047421 |
LitVar | rs768047421 |
Map | rs768047421 |
PheGenI | rs768047421 |
Biobank | rs768047421 |
1000 genomes | rs768047421 |
hgdp | rs768047421 |
ensembl | rs768047421 |
geneview | rs768047421 |
scholar | rs768047421 |
rs768047421 | |
pharmgkb | rs768047421 |
gwascentral | rs768047421 |
openSNP | rs768047421 |
23andMe | rs768047421 |
SNPshot | rs768047421 |
SNPdbe | rs768047421 |
MSV3d | rs768047421 |
GWAS Ctlg | rs768047421 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs768047421(T;T) |
Alt | rs768047421(T;T) |
Reference | Rs768047421(C;C) |
Significance | Pathogenic |
Disease | LOPES-MACIEL-RODAN SYNDROME |
Variation | info |
Gene | HTT |
CLNDBN | LOPES-MACIEL-RODAN SYNDROME |
Reversed | 0 |
HGVS | NC_000004.11:g.3133374C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000477706.1, |