rs397515534
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs397515534(A;C) |
Make rs397515534(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 19989284 |
Gene | LOC101928222, WDR35 |
is a | snp |
is | mentioned by |
dbSNP | rs397515534 |
dbSNP (classic) | rs397515534 |
ClinGen | rs397515534 |
ebi | rs397515534 |
HLI | rs397515534 |
Exac | rs397515534 |
Gnomad | rs397515534 |
Varsome | rs397515534 |
LitVar | rs397515534 |
Map | rs397515534 |
PheGenI | rs397515534 |
Biobank | rs397515534 |
1000 genomes | rs397515534 |
hgdp | rs397515534 |
ensembl | rs397515534 |
geneview | rs397515534 |
scholar | rs397515534 |
rs397515534 | |
pharmgkb | rs397515534 |
gwascentral | rs397515534 |
openSNP | rs397515534 |
23andMe | rs397515534 |
SNPshot | rs397515534 |
SNPdbe | rs397515534 |
MSV3d | rs397515534 |
GWAS Ctlg | rs397515534 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397515534(C;C) rs397515534(G;G) |
Alt | rs397515534(C;C) rs397515534(G;G) |
Reference | Rs397515534(A;A) |
Significance | Pathogenic |
Disease | Cranioectodermal dysplasia 2 |
Variation | info |
Gene | LOC101928222 WDR35 |
CLNDBN | Cranioectodermal dysplasia 2 |
Reversed | 1 |
HGVS | NC_000002.11:g.20189045T>C; NC_000002.11:g.20189045T>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000037.3, RCV000055832.1, |