rs121909130
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121909130(G;T) |
Make rs121909130(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 52306272 |
Gene | KRT86 |
is a | snp |
is | mentioned by |
dbSNP | rs121909130 |
dbSNP (classic) | rs121909130 |
ClinGen | rs121909130 |
ebi | rs121909130 |
HLI | rs121909130 |
Exac | rs121909130 |
Gnomad | rs121909130 |
Varsome | rs121909130 |
LitVar | rs121909130 |
Map | rs121909130 |
PheGenI | rs121909130 |
Biobank | rs121909130 |
1000 genomes | rs121909130 |
hgdp | rs121909130 |
ensembl | rs121909130 |
geneview | rs121909130 |
scholar | rs121909130 |
rs121909130 | |
pharmgkb | rs121909130 |
gwascentral | rs121909130 |
openSNP | rs121909130 |
23andMe | rs121909130 |
SNPshot | rs121909130 |
SNPdbe | rs121909130 |
MSV3d | rs121909130 |
GWAS Ctlg | rs121909130 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121909130(T;T) |
Alt | rs121909130(T;T) |
Reference | Rs121909130(G;G) |
Significance | Pathogenic |
Disease | Beaded hair not provided |
Variation | info |
Gene | KRT86 |
CLNDBN | Beaded hair not provided |
Reversed | 0 |
HGVS | NC_000012.11:g.52700056G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000008049.2, RCV000056960.1, |