rs63750428
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs63750428(C;T) |
Make rs63750428(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 16154767 |
Gene | ABCC6 |
is a | snp |
is | mentioned by |
dbSNP | rs63750428 |
dbSNP (classic) | rs63750428 |
ClinGen | rs63750428 |
ebi | rs63750428 |
HLI | rs63750428 |
Exac | rs63750428 |
Gnomad | rs63750428 |
Varsome | rs63750428 |
LitVar | rs63750428 |
Map | rs63750428 |
PheGenI | rs63750428 |
Biobank | rs63750428 |
1000 genomes | rs63750428 |
hgdp | rs63750428 |
ensembl | rs63750428 |
geneview | rs63750428 |
scholar | rs63750428 |
rs63750428 | |
pharmgkb | rs63750428 |
gwascentral | rs63750428 |
openSNP | rs63750428 |
23andMe | rs63750428 |
SNPshot | rs63750428 |
SNPdbe | rs63750428 |
MSV3d | rs63750428 |
GWAS Ctlg | rs63750428 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs63750428(T;T) |
Alt | rs63750428(T;T) |
Reference | Rs63750428(C;C) |
Significance | Probable-non-pathogenic |
Disease | not provided |
Variation | info |
Gene | ABCC6 |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000016.9:g.16248624G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000132641.1, |
[PMID 15645653] Identification of two novel missense mutations (p.R1221C and p.R1357W) in the ABCC6 (MRP6) gene in a Japanese patient with pseudoxanthoma elasticum (PXE).