rs121918654
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GC;GC) | 0 | common in clinvar |
Make rs121918654(AA;AA) |
Make rs121918654(AA;GC) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 124503218 |
Gene | NR5A1 |
is a | snp |
is | mentioned by |
dbSNP | rs121918654 |
dbSNP (classic) | rs121918654 |
ClinGen | rs121918654 |
ebi | rs121918654 |
HLI | rs121918654 |
Exac | rs121918654 |
Gnomad | rs121918654 |
Varsome | rs121918654 |
LitVar | rs121918654 |
Map | rs121918654 |
PheGenI | rs121918654 |
Biobank | rs121918654 |
1000 genomes | rs121918654 |
hgdp | rs121918654 |
ensembl | rs121918654 |
geneview | rs121918654 |
scholar | rs121918654 |
rs121918654 | |
pharmgkb | rs121918654 |
gwascentral | rs121918654 |
openSNP | rs121918654 |
23andMe | rs121918654 |
SNPshot | rs121918654 |
SNPdbe | rs121918654 |
MSV3d | rs121918654 |
GWAS Ctlg | rs121918654 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918654(AA;AA) |
Alt | rs121918654(AA;AA) |
Reference | Rs121918654(GC;GC) |
Significance | Pathogenic |
Disease | 46 |
Variation | info |
Gene | NR5A1 |
CLNDBN | 46,XY sex reversal, type 3 |
Reversed | 1 |
HGVS | NC_000009.11:g.127265497_127265498delGCinsTT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000013638.24, |