rs1060499773
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs1060499773(C;T) |
Make rs1060499773(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 20 |
Position | 36209731 |
Gene | EPB41L1 |
is a | snp |
is | mentioned by |
dbSNP | rs1060499773 |
dbSNP (classic) | rs1060499773 |
ClinGen | rs1060499773 |
ebi | rs1060499773 |
HLI | rs1060499773 |
Exac | rs1060499773 |
Gnomad | rs1060499773 |
Varsome | rs1060499773 |
LitVar | rs1060499773 |
Map | rs1060499773 |
PheGenI | rs1060499773 |
Biobank | rs1060499773 |
1000 genomes | rs1060499773 |
hgdp | rs1060499773 |
ensembl | rs1060499773 |
geneview | rs1060499773 |
scholar | rs1060499773 |
rs1060499773 | |
pharmgkb | rs1060499773 |
gwascentral | rs1060499773 |
openSNP | rs1060499773 |
23andMe | rs1060499773 |
SNPshot | rs1060499773 |
SNPdbe | rs1060499773 |
MSV3d | rs1060499773 |
GWAS Ctlg | rs1060499773 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060499773(T;T) |
Alt | rs1060499773(T;T) |
Reference | Rs1060499773(C;C) |
Significance | Probable-Pathogenic |
Disease | Abnormality of brain morphology |
Variation | info |
Gene | EPB41L1 |
CLNDBN | Abnormality of brain morphology |
Reversed | 0 |
HGVS | NC_000020.10:g.34797653C>T |
CLNSRC | |
CLNACC | RCV000454281.1, |