rs28942072
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 8.8 | Tay-Sachs disease (predicted) |
(A;T) | 3 | Carrier of a Tay-Sachs mutation |
(T;T) | 0 | common in clinvar |
Make rs28942072(C;C) |
Make rs28942072(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 72349093 |
Gene | HEXA |
is a | snp |
is | mentioned by |
dbSNP | rs28942072 |
dbSNP (classic) | rs28942072 |
ClinGen | rs28942072 |
ebi | rs28942072 |
HLI | rs28942072 |
Exac | rs28942072 |
Gnomad | rs28942072 |
Varsome | rs28942072 |
LitVar | rs28942072 |
Map | rs28942072 |
PheGenI | rs28942072 |
Biobank | rs28942072 |
1000 genomes | rs28942072 |
hgdp | rs28942072 |
ensembl | rs28942072 |
geneview | rs28942072 |
scholar | rs28942072 |
rs28942072 | |
pharmgkb | rs28942072 |
gwascentral | rs28942072 |
openSNP | rs28942072 |
23andMe | rs28942072 |
SNPshot | rs28942072 |
SNPdbe | rs28942072 |
MSV3d | rs28942072 |
GWAS Ctlg | rs28942072 |
Max Magnitude | 8.8 |
ClinVar | |
---|---|
Risk | Rs28942072(A;A) rs28942072(C;C) |
Alt | Rs28942072(A;A) rs28942072(C;C) |
Reference | Rs28942072(T;T) |
Significance | Pathogenic |
Disease | Gm2-gangliosidosis |
Variation | info |
Gene | HEXA |
CLNDBN | Gm2-gangliosidosis, subacute |
Reversed | 1 |
HGVS | NC_000015.9:g.72641434A>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000004149.2, |