rs1057519006
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs1057519006(C;C) |
Make rs1057519006(C;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | X |
Position | 48512598 |
Gene | PORCN |
is a | snp |
is | mentioned by |
dbSNP | rs1057519006 |
dbSNP (classic) | rs1057519006 |
ClinGen | rs1057519006 |
ebi | rs1057519006 |
HLI | rs1057519006 |
Exac | rs1057519006 |
Gnomad | rs1057519006 |
Varsome | rs1057519006 |
LitVar | rs1057519006 |
Map | rs1057519006 |
PheGenI | rs1057519006 |
Biobank | rs1057519006 |
1000 genomes | rs1057519006 |
hgdp | rs1057519006 |
ensembl | rs1057519006 |
geneview | rs1057519006 |
scholar | rs1057519006 |
rs1057519006 | |
pharmgkb | rs1057519006 |
gwascentral | rs1057519006 |
openSNP | rs1057519006 |
23andMe | rs1057519006 |
SNPshot | rs1057519006 |
SNPdbe | rs1057519006 |
MSV3d | rs1057519006 |
GWAS Ctlg | rs1057519006 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057519006(C;C) |
Alt | rs1057519006(C;C) |
Reference | Rs1057519006(T;T) |
Significance | Probable-Pathogenic |
Disease | Focal dermal hypoplasia |
Variation | info |
Gene | PORCN |
CLNDBN | Focal dermal hypoplasia |
Reversed | 0 |
HGVS | NC_000023.10:g.48370986T>C |
CLNSRC | |
CLNACC | RCV000414798.1, |