rs1060500101
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(ATCCAGTATAT;ATCCAGTATAT) | 0 | common in clinvar |
Make rs1060500101(-;-) |
Make rs1060500101(-;ATCCAGTATAT) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 14 |
Position | 65077987 |
Gene | MAX |
is a | snp |
is | mentioned by |
dbSNP | rs1060500101 |
dbSNP (classic) | rs1060500101 |
ClinGen | rs1060500101 |
ebi | rs1060500101 |
HLI | rs1060500101 |
Exac | rs1060500101 |
Gnomad | rs1060500101 |
Varsome | rs1060500101 |
LitVar | rs1060500101 |
Map | rs1060500101 |
PheGenI | rs1060500101 |
Biobank | rs1060500101 |
1000 genomes | rs1060500101 |
hgdp | rs1060500101 |
ensembl | rs1060500101 |
geneview | rs1060500101 |
scholar | rs1060500101 |
rs1060500101 | |
pharmgkb | rs1060500101 |
gwascentral | rs1060500101 |
openSNP | rs1060500101 |
23andMe | rs1060500101 |
SNPshot | rs1060500101 |
SNPdbe | rs1060500101 |
MSV3d | rs1060500101 |
GWAS Ctlg | rs1060500101 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060500101(-;-) |
Alt | rs1060500101(-;-) |
Reference | Rs1060500101(ATCCAGTATAT;ATCCAGTATAT) |
Significance | Pathogenic |
Disease | Hereditary Paraganglioma-Pheochromocytoma Syndromes |
Variation | info |
Gene | MAX |
CLNDBN | Hereditary Paraganglioma-Pheochromocytoma Syndromes |
Reversed | 1 |
HGVS | NC_000014.8:g.65544705_65544715delATATACTGGAT |
CLNSRC | |
CLNACC | RCV000461175.1, |