rs121434306
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121434306(C;T) |
Make rs121434306(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 48411961 |
Gene | LPAR6, RB1 |
is a | snp |
is | mentioned by |
dbSNP | rs121434306 |
dbSNP (classic) | rs121434306 |
ClinGen | rs121434306 |
ebi | rs121434306 |
HLI | rs121434306 |
Exac | rs121434306 |
Gnomad | rs121434306 |
Varsome | rs121434306 |
LitVar | rs121434306 |
Map | rs121434306 |
PheGenI | rs121434306 |
Biobank | rs121434306 |
1000 genomes | rs121434306 |
hgdp | rs121434306 |
ensembl | rs121434306 |
geneview | rs121434306 |
scholar | rs121434306 |
rs121434306 | |
pharmgkb | rs121434306 |
gwascentral | rs121434306 |
openSNP | rs121434306 |
23andMe | rs121434306 |
SNPshot | rs121434306 |
SNPdbe | rs121434306 |
MSV3d | rs121434306 |
GWAS Ctlg | rs121434306 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121434306(T;T) |
Alt | rs121434306(T;T) |
Reference | Rs121434306(C;C) |
Significance | Pathogenic |
Disease | Hypotrichosis 8 |
Variation | info |
Gene | RB1 LPAR6 |
CLNDBN | Hypotrichosis 8 |
Reversed | 1 |
HGVS | NC_000013.10:g.48986097G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001898.2, |