rs63751001
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs63751001(A;A) |
Make rs63751001(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 16159555 |
Gene | ABCC6 |
is a | snp |
is | mentioned by |
dbSNP | rs63751001 |
dbSNP (classic) | rs63751001 |
ClinGen | rs63751001 |
ebi | rs63751001 |
HLI | rs63751001 |
Exac | rs63751001 |
Gnomad | rs63751001 |
Varsome | rs63751001 |
LitVar | rs63751001 |
Map | rs63751001 |
PheGenI | rs63751001 |
Biobank | rs63751001 |
1000 genomes | rs63751001 |
hgdp | rs63751001 |
ensembl | rs63751001 |
geneview | rs63751001 |
scholar | rs63751001 |
rs63751001 | |
pharmgkb | rs63751001 |
gwascentral | rs63751001 |
openSNP | rs63751001 |
23andMe | rs63751001 |
SNPshot | rs63751001 |
SNPdbe | rs63751001 |
MSV3d | rs63751001 |
GWAS Ctlg | rs63751001 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs63751001(A;A) |
Alt | rs63751001(A;A) |
Reference | Rs63751001(G;G) |
Significance | Untested |
Disease | |
Variation | info |
Gene | ABCC6 |
CLNDBN | |
Reversed | 1 |
HGVS | NC_000016.9:g.16253412C>T |
CLNSRC | |
CLNACC |
[PMID 17617515] Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.