rs879255243
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GGAG;GGAG) | 0 | common in clinvar |
Make rs879255243(-;-) |
Make rs879255243(-;GGAG) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 24347487 |
Gene | GRHL3 |
is a | snp |
is | mentioned by |
dbSNP | rs879255243 |
dbSNP (classic) | rs879255243 |
ClinGen | rs879255243 |
ebi | rs879255243 |
HLI | rs879255243 |
Exac | rs879255243 |
Gnomad | rs879255243 |
Varsome | rs879255243 |
LitVar | rs879255243 |
Map | rs879255243 |
PheGenI | rs879255243 |
Biobank | rs879255243 |
1000 genomes | rs879255243 |
hgdp | rs879255243 |
ensembl | rs879255243 |
geneview | rs879255243 |
scholar | rs879255243 |
rs879255243 | |
pharmgkb | rs879255243 |
gwascentral | rs879255243 |
openSNP | rs879255243 |
23andMe | rs879255243 |
SNPshot | rs879255243 |
SNPdbe | rs879255243 |
MSV3d | rs879255243 |
GWAS Ctlg | rs879255243 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879255243(-;-) |
Alt | rs879255243(-;-) |
Reference | Rs879255243(GGAG;GGAG) |
Significance | Pathogenic |
Disease | Van der Woude syndrome 2 |
Variation | info |
Gene | GRHL3 |
CLNDBN | Van der Woude syndrome 2 |
Reversed | 0 |
HGVS | NC_000001.10:g.24673977_24673980delGGAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000087750.3, |