rs63751086
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs63751086(A;A) |
Make rs63751086(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 16154973 |
Gene | ABCC6 |
is a | snp |
is | mentioned by |
dbSNP | rs63751086 |
dbSNP (classic) | rs63751086 |
ClinGen | rs63751086 |
ebi | rs63751086 |
HLI | rs63751086 |
Exac | rs63751086 |
Gnomad | rs63751086 |
Varsome | rs63751086 |
LitVar | rs63751086 |
Map | rs63751086 |
PheGenI | rs63751086 |
Biobank | rs63751086 |
1000 genomes | rs63751086 |
hgdp | rs63751086 |
ensembl | rs63751086 |
geneview | rs63751086 |
scholar | rs63751086 |
rs63751086 | |
pharmgkb | rs63751086 |
gwascentral | rs63751086 |
openSNP | rs63751086 |
23andMe | rs63751086 |
SNPshot | rs63751086 |
SNPdbe | rs63751086 |
MSV3d | rs63751086 |
GWAS Ctlg | rs63751086 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs63751086(A;A) |
Alt | rs63751086(A;A) |
Reference | Rs63751086(G;G) |
Significance | Untested |
Disease | not specified |
Variation | info |
Gene | ABCC6 |
CLNDBN | not specified |
Reversed | 1 |
HGVS | NC_000016.9:g.16248830C>T |
CLNSRC | |
CLNACC | RCV000454613.1, |
[PMID 11536079] A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.