rs398124646
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs398124646(A;A) |
Make rs398124646(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 185254016 |
Gene | EHHADH, MIR5588 |
is a | snp |
is | mentioned by |
dbSNP | rs398124646 |
dbSNP (classic) | rs398124646 |
ClinGen | rs398124646 |
ebi | rs398124646 |
HLI | rs398124646 |
Exac | rs398124646 |
Gnomad | rs398124646 |
Varsome | rs398124646 |
LitVar | rs398124646 |
Map | rs398124646 |
PheGenI | rs398124646 |
Biobank | rs398124646 |
1000 genomes | rs398124646 |
hgdp | rs398124646 |
ensembl | rs398124646 |
geneview | rs398124646 |
scholar | rs398124646 |
rs398124646 | |
pharmgkb | rs398124646 |
gwascentral | rs398124646 |
openSNP | rs398124646 |
23andMe | rs398124646 |
SNPshot | rs398124646 |
SNPdbe | rs398124646 |
MSV3d | rs398124646 |
GWAS Ctlg | rs398124646 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398124646(A;A) |
Alt | rs398124646(A;A) |
Reference | Rs398124646(G;G) |
Significance | Pathogenic |
Disease | Fanconi renotubular syndrome 3 |
Variation | info |
Gene | MIR5588 EHHADH |
CLNDBN | Fanconi renotubular syndrome 3 |
Reversed | 1 |
HGVS | NC_000003.11:g.184971804C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000082871.2, |