rs66492417
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs66492417(G;T) |
Make rs66492417(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 16178909 |
Gene | ABCC6 |
is a | snp |
is | mentioned by |
dbSNP | rs66492417 |
dbSNP (classic) | rs66492417 |
ClinGen | rs66492417 |
ebi | rs66492417 |
HLI | rs66492417 |
Exac | rs66492417 |
Gnomad | rs66492417 |
Varsome | rs66492417 |
LitVar | rs66492417 |
Map | rs66492417 |
PheGenI | rs66492417 |
Biobank | rs66492417 |
1000 genomes | rs66492417 |
hgdp | rs66492417 |
ensembl | rs66492417 |
geneview | rs66492417 |
scholar | rs66492417 |
rs66492417 | |
pharmgkb | rs66492417 |
gwascentral | rs66492417 |
openSNP | rs66492417 |
23andMe | rs66492417 |
SNPshot | rs66492417 |
SNPdbe | rs66492417 |
MSV3d | rs66492417 |
GWAS Ctlg | rs66492417 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs66492417(T;T) |
Alt | rs66492417(T;T) |
Reference | Rs66492417(G;G) |
Significance | Untested |
Disease | |
Variation | info |
Gene | ABCC6 |
CLNDBN | |
Reversed | 0 |
HGVS | NC_000016.9:g.16272766G>T |
CLNSRC | |
CLNACC |
[PMID 11536079] A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.