rs387906750
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs387906750(A;G) |
Make rs387906750(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 5001531 |
Gene | AKR1C2 |
is a | snp |
is | mentioned by |
dbSNP | rs387906750 |
dbSNP (classic) | rs387906750 |
ClinGen | rs387906750 |
ebi | rs387906750 |
HLI | rs387906750 |
Exac | rs387906750 |
Gnomad | rs387906750 |
Varsome | rs387906750 |
LitVar | rs387906750 |
Map | rs387906750 |
PheGenI | rs387906750 |
Biobank | rs387906750 |
1000 genomes | rs387906750 |
hgdp | rs387906750 |
ensembl | rs387906750 |
geneview | rs387906750 |
scholar | rs387906750 |
rs387906750 | |
pharmgkb | rs387906750 |
gwascentral | rs387906750 |
openSNP | rs387906750 |
23andMe | rs387906750 |
SNPshot | rs387906750 |
SNPdbe | rs387906750 |
MSV3d | rs387906750 |
GWAS Ctlg | rs387906750 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906750(G;G) |
Alt | rs387906750(G;G) |
Reference | Rs387906750(A;A) |
Significance | Pathogenic |
Disease | 46 |
Variation | info |
Gene | AKR1C2 |
CLNDBN | 46,XY sex reversal 8 |
Reversed | 1 |
HGVS | NC_000010.10:g.5043723T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000022967.2, |