rs879253749
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs879253749(G;T) |
Make rs879253749(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 17 |
Position | 40751284 |
Gene | KRT25 |
is a | snp |
is | mentioned by |
dbSNP | rs879253749 |
dbSNP (classic) | rs879253749 |
ClinGen | rs879253749 |
ebi | rs879253749 |
HLI | rs879253749 |
Exac | rs879253749 |
Gnomad | rs879253749 |
Varsome | rs879253749 |
LitVar | rs879253749 |
Map | rs879253749 |
PheGenI | rs879253749 |
Biobank | rs879253749 |
1000 genomes | rs879253749 |
hgdp | rs879253749 |
ensembl | rs879253749 |
geneview | rs879253749 |
scholar | rs879253749 |
rs879253749 | |
pharmgkb | rs879253749 |
gwascentral | rs879253749 |
openSNP | rs879253749 |
23andMe | rs879253749 |
SNPshot | rs879253749 |
SNPdbe | rs879253749 |
MSV3d | rs879253749 |
GWAS Ctlg | rs879253749 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879253749(T;T) |
Alt | rs879253749(T;T) |
Reference | Rs879253749(G;G) |
Significance | Pathogenic |
Disease | Autosomal Recessive Hypotrichosis with Woolly Hair Autosomal recessive woolly hair 3 |
Variation | info |
Gene | KRT25 |
CLNDBN | Autosomal Recessive Hypotrichosis with Woolly Hair Autosomal recessive woolly hair 3 |
Reversed | 1 |
HGVS | NC_000017.10:g.38907536C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000234939.1, RCV000490551.1, |