rs761635539
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs761635539(A;A) |
Make rs761635539(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 6495931 |
Gene | TUBB4A |
is a | snp |
is | mentioned by |
dbSNP | rs761635539 |
dbSNP (classic) | rs761635539 |
ClinGen | rs761635539 |
ebi | rs761635539 |
HLI | rs761635539 |
Exac | rs761635539 |
Gnomad | rs761635539 |
Varsome | rs761635539 |
LitVar | rs761635539 |
Map | rs761635539 |
PheGenI | rs761635539 |
Biobank | rs761635539 |
1000 genomes | rs761635539 |
hgdp | rs761635539 |
ensembl | rs761635539 |
geneview | rs761635539 |
scholar | rs761635539 |
rs761635539 | |
pharmgkb | rs761635539 |
gwascentral | rs761635539 |
openSNP | rs761635539 |
23andMe | rs761635539 |
SNPshot | rs761635539 |
SNPdbe | rs761635539 |
MSV3d | rs761635539 |
GWAS Ctlg | rs761635539 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs761635539(A;A) |
Alt | rs761635539(A;A) |
Reference | Rs761635539(G;G) |
Significance | Pathogenic |
Disease | Leukodystrophy |
Variation | info |
Gene | TUBB4A |
CLNDBN | Leukodystrophy, hypomyelinating, 6 |
Reversed | 0 |
HGVS | NC_000019.9:g.6495942G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000173012.2, |