rs749740335
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TT;TT) | 0 | common in clinvar |
Make rs749740335(-;-) |
Make rs749740335(-;TT) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 179552620 |
Gene | AXDND1, NPHS2 |
is a | snp |
is | mentioned by |
dbSNP | rs749740335 |
dbSNP (classic) | rs749740335 |
ClinGen | rs749740335 |
ebi | rs749740335 |
HLI | rs749740335 |
Exac | rs749740335 |
Gnomad | rs749740335 |
Varsome | rs749740335 |
LitVar | rs749740335 |
Map | rs749740335 |
PheGenI | rs749740335 |
Biobank | rs749740335 |
1000 genomes | rs749740335 |
hgdp | rs749740335 |
ensembl | rs749740335 |
geneview | rs749740335 |
scholar | rs749740335 |
rs749740335 | |
pharmgkb | rs749740335 |
gwascentral | rs749740335 |
openSNP | rs749740335 |
23andMe | rs749740335 |
SNPshot | rs749740335 |
SNPdbe | rs749740335 |
MSV3d | rs749740335 |
GWAS Ctlg | rs749740335 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs749740335(-;-) |
Alt | rs749740335(-;-) |
Reference | Rs749740335(TT;TT) |
Significance | Probable-Pathogenic |
Disease | Nephrotic syndrome |
Variation | info |
Gene | NPHS2 AXDND1 |
CLNDBN | Nephrotic syndrome, idiopathic, steroid-resistant |
Reversed | 0 |
HGVS | NC_000001.10:g.179521755_179521756delTT |
CLNSRC | Counsyl |
CLNACC | RCV000169166.1, |