rs142948132
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs142948132(A;A) |
Make rs142948132(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 70035434 |
Gene | EDA |
is a | snp |
is | mentioned by |
dbSNP | rs142948132 |
dbSNP (classic) | rs142948132 |
ClinGen | rs142948132 |
ebi | rs142948132 |
HLI | rs142948132 |
Exac | rs142948132 |
Gnomad | rs142948132 |
Varsome | rs142948132 |
LitVar | rs142948132 |
Map | rs142948132 |
PheGenI | rs142948132 |
Biobank | rs142948132 |
1000 genomes | rs142948132 |
hgdp | rs142948132 |
ensembl | rs142948132 |
geneview | rs142948132 |
scholar | rs142948132 |
rs142948132 | |
pharmgkb | rs142948132 |
gwascentral | rs142948132 |
openSNP | rs142948132 |
23andMe | rs142948132 |
SNPshot | rs142948132 |
SNPdbe | rs142948132 |
MSV3d | rs142948132 |
GWAS Ctlg | rs142948132 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs142948132(A;A) rs142948132(C;C) |
Alt | rs142948132(A;A) rs142948132(C;C) |
Reference | Rs142948132(G;G) |
Significance | Pathogenic |
Disease | Tooth agenesis not specified |
Variation | info |
Gene | EDA |
CLNDBN | Tooth agenesis, selective, X-linked, 1 not specified |
Reversed | 0 |
HGVS | NC_000023.10:g.69255284G>A; NC_000023.10:g.69255284G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000239557.1, RCV000223353.1, |