rs121918554
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs121918554(A;G) |
Make rs121918554(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 93101615 |
Gene | SAMD9 |
is a | snp |
is | mentioned by |
dbSNP | rs121918554 |
dbSNP (classic) | rs121918554 |
ClinGen | rs121918554 |
ebi | rs121918554 |
HLI | rs121918554 |
Exac | rs121918554 |
Gnomad | rs121918554 |
Varsome | rs121918554 |
LitVar | rs121918554 |
Map | rs121918554 |
PheGenI | rs121918554 |
Biobank | rs121918554 |
1000 genomes | rs121918554 |
hgdp | rs121918554 |
ensembl | rs121918554 |
geneview | rs121918554 |
scholar | rs121918554 |
rs121918554 | |
pharmgkb | rs121918554 |
gwascentral | rs121918554 |
openSNP | rs121918554 |
23andMe | rs121918554 |
SNPshot | rs121918554 |
SNPdbe | rs121918554 |
MSV3d | rs121918554 |
GWAS Ctlg | rs121918554 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918554(G;G) |
Alt | rs121918554(G;G) |
Reference | Rs121918554(A;A) |
Significance | Pathogenic |
Disease | Tumoral calcinosis |
Variation | info |
Gene | SAMD9 |
CLNDBN | Tumoral calcinosis, familial, normophosphatemic |
Reversed | 1 |
HGVS | NC_000007.13:g.92730928T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000001288.3, |