rs1057519613
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1057519613(G;T) |
Make rs1057519613(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 4 |
Position | 94253672 |
Gene | SMARCAD1 |
is a | snp |
is | mentioned by |
dbSNP | rs1057519613 |
dbSNP (classic) | rs1057519613 |
ClinGen | rs1057519613 |
ebi | rs1057519613 |
HLI | rs1057519613 |
Exac | rs1057519613 |
Gnomad | rs1057519613 |
Varsome | rs1057519613 |
LitVar | rs1057519613 |
Map | rs1057519613 |
PheGenI | rs1057519613 |
Biobank | rs1057519613 |
1000 genomes | rs1057519613 |
hgdp | rs1057519613 |
ensembl | rs1057519613 |
geneview | rs1057519613 |
scholar | rs1057519613 |
rs1057519613 | |
pharmgkb | rs1057519613 |
gwascentral | rs1057519613 |
openSNP | rs1057519613 |
23andMe | rs1057519613 |
SNPshot | rs1057519613 |
SNPdbe | rs1057519613 |
MSV3d | rs1057519613 |
GWAS Ctlg | rs1057519613 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057519613(A;A) rs1057519613(T;T) |
Alt | rs1057519613(A;A) rs1057519613(T;T) |
Reference | Rs1057519613(G;G) |
Significance | Pathogenic |
Disease | Adermatoglyphia Basan syndrome |
Variation | info |
Gene | SMARCAD1 |
CLNDBN | Adermatoglyphia Basan syndrome |
Reversed | 0 |
HGVS | NC_000004.11:g.95174823G>A; NC_000004.11:g.95174823G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000167533.4, RCV000023972.4, RCV000417757.1, |