rs895436485
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs895436485(A;T) |
Make rs895436485(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 4 |
Position | 94253674 |
Gene | SMARCAD1 |
is a | snp |
is | mentioned by |
dbSNP | rs895436485 |
dbSNP (classic) | rs895436485 |
ClinGen | rs895436485 |
ebi | rs895436485 |
HLI | rs895436485 |
Exac | rs895436485 |
Gnomad | rs895436485 |
Varsome | rs895436485 |
LitVar | rs895436485 |
Map | rs895436485 |
PheGenI | rs895436485 |
Biobank | rs895436485 |
1000 genomes | rs895436485 |
hgdp | rs895436485 |
ensembl | rs895436485 |
geneview | rs895436485 |
scholar | rs895436485 |
rs895436485 | |
pharmgkb | rs895436485 |
gwascentral | rs895436485 |
openSNP | rs895436485 |
23andMe | rs895436485 |
SNPshot | rs895436485 |
SNPdbe | rs895436485 |
MSV3d | rs895436485 |
GWAS Ctlg | rs895436485 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs895436485(G;G) rs895436485(T;T) |
Alt | rs895436485(G;G) rs895436485(T;T) |
Reference | Rs895436485(A;A) |
Significance | Pathogenic |
Disease | Basan syndrome |
Variation | info |
Gene | SMARCAD1 |
CLNDBN | Basan syndrome |
Reversed | 0 |
HGVS | NC_000004.11:g.95174825A>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000167536.6, |