rs1054950770
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 19 |
Position | 35851260 |
Gene | KIRREL2, NPHS1 |
is a | snp |
is | mentioned by |
dbSNP | rs1054950770 |
dbSNP (classic) | rs1054950770 |
ClinGen | rs1054950770 |
ebi | rs1054950770 |
HLI | rs1054950770 |
Exac | rs1054950770 |
Gnomad | rs1054950770 |
Varsome | rs1054950770 |
LitVar | rs1054950770 |
Map | rs1054950770 |
PheGenI | rs1054950770 |
Biobank | rs1054950770 |
1000 genomes | rs1054950770 |
hgdp | rs1054950770 |
ensembl | rs1054950770 |
geneview | rs1054950770 |
scholar | rs1054950770 |
rs1054950770 | |
pharmgkb | rs1054950770 |
gwascentral | rs1054950770 |
openSNP | rs1054950770 |
23andMe | rs1054950770 |
SNPshot | rs1054950770 |
SNPdbe | rs1054950770 |
MSV3d | rs1054950770 |
GWAS Ctlg | rs1054950770 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1054950770(G;G) |
Alt | rs1054950770(G;G) |
Reference | Rs1054950770(A;A) |
Significance | Probable-Pathogenic |
Disease | Finnish congenital nephrotic syndrome |
Variation | info |
Gene | |
CLNDBN | Finnish congenital nephrotic syndrome |
Reversed | 0 |
HGVS | NC_000019.9:g.36342162A>G |
CLNSRC | |
CLNACC | RCV000410346.1, |