rs63750295
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs63750295(C;C) |
Make rs63750295(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 16150710 |
Gene | ABCC6 |
is a | snp |
is | mentioned by |
dbSNP | rs63750295 |
dbSNP (classic) | rs63750295 |
ClinGen | rs63750295 |
ebi | rs63750295 |
HLI | rs63750295 |
Exac | rs63750295 |
Gnomad | rs63750295 |
Varsome | rs63750295 |
LitVar | rs63750295 |
Map | rs63750295 |
PheGenI | rs63750295 |
Biobank | rs63750295 |
1000 genomes | rs63750295 |
hgdp | rs63750295 |
ensembl | rs63750295 |
geneview | rs63750295 |
scholar | rs63750295 |
rs63750295 | |
pharmgkb | rs63750295 |
gwascentral | rs63750295 |
openSNP | rs63750295 |
23andMe | rs63750295 |
SNPshot | rs63750295 |
SNPdbe | rs63750295 |
MSV3d | rs63750295 |
GWAS Ctlg | rs63750295 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs63750295(C;C) |
Alt | rs63750295(C;C) |
Reference | Rs63750295(T;T) |
Significance | Untested |
Disease | |
Variation | info |
Gene | ABCC6 |
CLNDBN | |
Reversed | 1 |
HGVS | NC_000016.9:g.16244567A>G |
CLNSRC | |
CLNACC |
[PMID 11536079] A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.