rs786205901
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs786205901(C;C) |
Make rs786205901(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 180803598 |
Gene | XPR1 |
is a | snp |
is | mentioned by |
dbSNP | rs786205901 |
dbSNP (classic) | rs786205901 |
ClinGen | rs786205901 |
ebi | rs786205901 |
HLI | rs786205901 |
Exac | rs786205901 |
Gnomad | rs786205901 |
Varsome | rs786205901 |
LitVar | rs786205901 |
Map | rs786205901 |
PheGenI | rs786205901 |
Biobank | rs786205901 |
1000 genomes | rs786205901 |
hgdp | rs786205901 |
ensembl | rs786205901 |
geneview | rs786205901 |
scholar | rs786205901 |
rs786205901 | |
pharmgkb | rs786205901 |
gwascentral | rs786205901 |
openSNP | rs786205901 |
23andMe | rs786205901 |
SNPshot | rs786205901 |
SNPdbe | rs786205901 |
MSV3d | rs786205901 |
GWAS Ctlg | rs786205901 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205901(C;C) |
Alt | rs786205901(C;C) |
Reference | Rs786205901(T;T) |
Significance | Pathogenic |
Disease | Basal ganglia calcification |
Variation | info |
Gene | XPR1 |
CLNDBN | Basal ganglia calcification, idiopathic, 6 |
Reversed | 0 |
HGVS | NC_000001.10:g.180772734T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000172879.2, |