rs1060499701
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1060499701(C;C) |
Make rs1060499701(C;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 5 |
Position | 74685559 |
Gene | HEXB |
is a | snp |
is | mentioned by |
dbSNP | rs1060499701 |
dbSNP (classic) | rs1060499701 |
ClinGen | rs1060499701 |
ebi | rs1060499701 |
HLI | rs1060499701 |
Exac | rs1060499701 |
Gnomad | rs1060499701 |
Varsome | rs1060499701 |
LitVar | rs1060499701 |
Map | rs1060499701 |
PheGenI | rs1060499701 |
Biobank | rs1060499701 |
1000 genomes | rs1060499701 |
hgdp | rs1060499701 |
ensembl | rs1060499701 |
geneview | rs1060499701 |
scholar | rs1060499701 |
rs1060499701 | |
pharmgkb | rs1060499701 |
gwascentral | rs1060499701 |
openSNP | rs1060499701 |
23andMe | rs1060499701 |
SNPshot | rs1060499701 |
SNPdbe | rs1060499701 |
MSV3d | rs1060499701 |
GWAS Ctlg | rs1060499701 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060499701(C;C) |
Alt | rs1060499701(C;C) |
Reference | Rs1060499701(G;G) |
Significance | Pathogenic |
Disease | Sandhoff disease |
Variation | info |
Gene | HEXB |
CLNDBN | Sandhoff disease |
Reversed | 0 |
HGVS | NC_000005.9:g.73981384G>C |
CLNSRC | |
CLNACC | RCV000449491.1, |