rs63750402
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs63750402(C;T) |
Make rs63750402(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 16159514 |
Gene | ABCC6 |
is a | snp |
is | mentioned by |
dbSNP | rs63750402 |
dbSNP (classic) | rs63750402 |
ClinGen | rs63750402 |
ebi | rs63750402 |
HLI | rs63750402 |
Exac | rs63750402 |
Gnomad | rs63750402 |
Varsome | rs63750402 |
LitVar | rs63750402 |
Map | rs63750402 |
PheGenI | rs63750402 |
Biobank | rs63750402 |
1000 genomes | rs63750402 |
hgdp | rs63750402 |
ensembl | rs63750402 |
geneview | rs63750402 |
scholar | rs63750402 |
rs63750402 | |
pharmgkb | rs63750402 |
gwascentral | rs63750402 |
openSNP | rs63750402 |
23andMe | rs63750402 |
SNPshot | rs63750402 |
SNPdbe | rs63750402 |
MSV3d | rs63750402 |
GWAS Ctlg | rs63750402 |
GMAF | 0.007805 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs63750402(T;T) |
Alt | rs63750402(T;T) |
Reference | Rs63750402(C;C) |
Significance | Untested |
Disease | |
Variation | info |
Gene | ABCC6 |
CLNDBN | |
Reversed | 1 |
HGVS | NC_000016.9:g.16253371G>A |
CLNSRC | |
CLNACC |
[PMID 16086317] Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.