rs3729751
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs3729751(C;T) |
Make rs3729751(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 5 |
Position | 38481601 |
Gene | LIFR |
is a | snp |
is | mentioned by |
dbSNP | rs3729751 |
dbSNP (classic) | rs3729751 |
ClinGen | rs3729751 |
ebi | rs3729751 |
HLI | rs3729751 |
Exac | rs3729751 |
Gnomad | rs3729751 |
Varsome | rs3729751 |
LitVar | rs3729751 |
Map | rs3729751 |
PheGenI | rs3729751 |
Biobank | rs3729751 |
1000 genomes | rs3729751 |
hgdp | rs3729751 |
ensembl | rs3729751 |
geneview | rs3729751 |
scholar | rs3729751 |
rs3729751 | |
pharmgkb | rs3729751 |
gwascentral | rs3729751 |
openSNP | rs3729751 |
23andMe | rs3729751 |
SNPshot | rs3729751 |
SNPdbe | rs3729751 |
MSV3d | rs3729751 |
GWAS Ctlg | rs3729751 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs3729751(A;A) rs3729751(T;T) |
Alt | rs3729751(A;A) rs3729751(T;T) |
Reference | Rs3729751(C;C) |
Significance | Probable-Pathogenic |
Disease | not specified Stuve-Wiedemann syndrome Congenital anomalies of kidney and urinary tract |
Variation | info |
Gene | LIFR |
CLNDBN | not specified Stuve-Wiedemann syndrome Congenital anomalies of kidney and urinary tract |
Reversed | 1 |
HGVS | NC_000005.9:g.38481703G>A; NC_000005.9:g.38481703G>T |
CLNSRC | |
CLNACC | RCV000176060.1, RCV000294789.1, RCV000326373.1, RCV000490985.1, |