rs797044460
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs797044460(G;G) |
Make rs797044460(G;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 10 |
Position | 5000649 |
Gene | AKR1C2 |
is a | snp |
is | mentioned by |
dbSNP | rs797044460 |
dbSNP (classic) | rs797044460 |
ClinGen | rs797044460 |
ebi | rs797044460 |
HLI | rs797044460 |
Exac | rs797044460 |
Gnomad | rs797044460 |
Varsome | rs797044460 |
LitVar | rs797044460 |
Map | rs797044460 |
PheGenI | rs797044460 |
Biobank | rs797044460 |
1000 genomes | rs797044460 |
hgdp | rs797044460 |
ensembl | rs797044460 |
geneview | rs797044460 |
scholar | rs797044460 |
rs797044460 | |
pharmgkb | rs797044460 |
gwascentral | rs797044460 |
openSNP | rs797044460 |
23andMe | rs797044460 |
SNPshot | rs797044460 |
SNPdbe | rs797044460 |
MSV3d | rs797044460 |
GWAS Ctlg | rs797044460 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044460(G;G) |
Alt | rs797044460(G;G) |
Reference | Rs797044460(T;T) |
Significance | Pathogenic |
Disease | 46 |
Variation | info |
Gene | AKR1C2 |
CLNDBN | 46,XY sex reversal 8 |
Reversed | 1 |
HGVS | NC_000010.10:g.5042841A>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000022968.3, |