rs34315806
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs34315806(A;A) |
Make rs34315806(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 4 |
Position | 3160307 |
Gene | HTT |
is a | snp |
is | mentioned by |
dbSNP | rs34315806 |
dbSNP (classic) | rs34315806 |
ClinGen | rs34315806 |
ebi | rs34315806 |
HLI | rs34315806 |
Exac | rs34315806 |
Gnomad | rs34315806 |
Varsome | rs34315806 |
LitVar | rs34315806 |
Map | rs34315806 |
PheGenI | rs34315806 |
Biobank | rs34315806 |
1000 genomes | rs34315806 |
hgdp | rs34315806 |
ensembl | rs34315806 |
geneview | rs34315806 |
scholar | rs34315806 |
rs34315806 | |
pharmgkb | rs34315806 |
gwascentral | rs34315806 |
openSNP | rs34315806 |
23andMe | rs34315806 |
SNPshot | rs34315806 |
SNPdbe | rs34315806 |
MSV3d | rs34315806 |
GWAS Ctlg | rs34315806 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34315806(A;A) |
Alt | rs34315806(A;A) |
Reference | Rs34315806(G;G) |
Significance | Pathogenic |
Disease | LOPES-MACIEL-RODAN SYNDROME |
Variation | info |
Gene | HTT |
CLNDBN | LOPES-MACIEL-RODAN SYNDROME |
Reversed | 1 |
HGVS | NC_000004.11:g.3162034C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000477735.1, |