rs150584960
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs150584960(C;T) |
Make rs150584960(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 19 |
Position | 45421315 |
Gene | ERCC1 |
is a | snp |
is | mentioned by |
dbSNP | rs150584960 |
dbSNP (classic) | rs150584960 |
ClinGen | rs150584960 |
ebi | rs150584960 |
HLI | rs150584960 |
Exac | rs150584960 |
Gnomad | rs150584960 |
Varsome | rs150584960 |
LitVar | rs150584960 |
Map | rs150584960 |
PheGenI | rs150584960 |
Biobank | rs150584960 |
1000 genomes | rs150584960 |
hgdp | rs150584960 |
ensembl | rs150584960 |
geneview | rs150584960 |
scholar | rs150584960 |
rs150584960 | |
pharmgkb | rs150584960 |
gwascentral | rs150584960 |
openSNP | rs150584960 |
23andMe | rs150584960 |
SNPshot | rs150584960 |
SNPdbe | rs150584960 |
MSV3d | rs150584960 |
GWAS Ctlg | rs150584960 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs150584960(A;A) rs150584960(T;T) |
Alt | rs150584960(A;A) rs150584960(T;T) |
Reference | Rs150584960(C;C) |
Significance | Probable-Pathogenic |
Disease | Cerebrooculofacioskeletal syndrome 4 |
Variation | info |
Gene | ERCC1 |
CLNDBN | Cerebrooculofacioskeletal syndrome 4 |
Reversed | 0 |
HGVS | NC_000019.9:g.45924573C>A |
CLNSRC | |
CLNACC | RCV000490532.1, |