rs63750457
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs63750457(A;A) |
Make rs63750457(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 16163008 |
Gene | ABCC6 |
is a | snp |
is | mentioned by |
dbSNP | rs63750457 |
dbSNP (classic) | rs63750457 |
ClinGen | rs63750457 |
ebi | rs63750457 |
HLI | rs63750457 |
Exac | rs63750457 |
Gnomad | rs63750457 |
Varsome | rs63750457 |
LitVar | rs63750457 |
Map | rs63750457 |
PheGenI | rs63750457 |
Biobank | rs63750457 |
1000 genomes | rs63750457 |
hgdp | rs63750457 |
ensembl | rs63750457 |
geneview | rs63750457 |
scholar | rs63750457 |
rs63750457 | |
pharmgkb | rs63750457 |
gwascentral | rs63750457 |
openSNP | rs63750457 |
23andMe | rs63750457 |
SNPshot | rs63750457 |
SNPdbe | rs63750457 |
MSV3d | rs63750457 |
GWAS Ctlg | rs63750457 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs63750457(A;A) |
Alt | rs63750457(A;A) |
Reference | Rs63750457(G;G) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | ABCC6 |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000016.9:g.16256865C>T |
CLNSRC | |
CLNACC | RCV000413984.1, |
[PMID 16086317] Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.