rs63751241
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs63751241(A;A) |
Make rs63751241(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 16154638 |
Gene | ABCC6 |
is a | snp |
is | mentioned by |
dbSNP | rs63751241 |
dbSNP (classic) | rs63751241 |
ClinGen | rs63751241 |
ebi | rs63751241 |
HLI | rs63751241 |
Exac | rs63751241 |
Gnomad | rs63751241 |
Varsome | rs63751241 |
LitVar | rs63751241 |
Map | rs63751241 |
PheGenI | rs63751241 |
Biobank | rs63751241 |
1000 genomes | rs63751241 |
hgdp | rs63751241 |
ensembl | rs63751241 |
geneview | rs63751241 |
scholar | rs63751241 |
rs63751241 | |
pharmgkb | rs63751241 |
gwascentral | rs63751241 |
openSNP | rs63751241 |
23andMe | rs63751241 |
SNPshot | rs63751241 |
SNPdbe | rs63751241 |
MSV3d | rs63751241 |
GWAS Ctlg | rs63751241 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs63751241(A;A) |
Alt | rs63751241(A;A) |
Reference | Rs63751241(G;G) |
Significance | Untested |
Disease | |
Variation | info |
Gene | ABCC6 |
CLNDBN | |
Reversed | 1 |
HGVS | NC_000016.9:g.16248495C>T |
CLNSRC | |
CLNACC |
[PMID 15086542] Novel ABCC6 mutations in pseudoxanthoma elasticum.