rs1060505054
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs1060505054(-;-) |
Make rs1060505054(-;C) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 61404122 |
Gene | NFIA |
is a | snp |
is | mentioned by |
dbSNP | rs1060505054 |
dbSNP (classic) | rs1060505054 |
ClinGen | rs1060505054 |
ebi | rs1060505054 |
HLI | rs1060505054 |
Exac | rs1060505054 |
Gnomad | rs1060505054 |
Varsome | rs1060505054 |
LitVar | rs1060505054 |
Map | rs1060505054 |
PheGenI | rs1060505054 |
Biobank | rs1060505054 |
1000 genomes | rs1060505054 |
hgdp | rs1060505054 |
ensembl | rs1060505054 |
geneview | rs1060505054 |
scholar | rs1060505054 |
rs1060505054 | |
pharmgkb | rs1060505054 |
gwascentral | rs1060505054 |
openSNP | rs1060505054 |
23andMe | rs1060505054 |
SNPshot | rs1060505054 |
SNPdbe | rs1060505054 |
MSV3d | rs1060505054 |
GWAS Ctlg | rs1060505054 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060505054(-;-) |
Alt | rs1060505054(-;-) |
Reference | Rs1060505054(C;C) |
Significance | Pathogenic |
Disease | Brain malformations and urinary tract defects |
Variation | info |
Gene | NFIA |
CLNDBN | Brain malformations and urinary tract defects |
Reversed | 0 |
HGVS | NC_000001.10:g.61869794delC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000477965.1, |