rs104894959
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs104894959(C;G) |
Make rs104894959(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | Y |
Position | 2787334 |
Gene | SRY |
is a | snp |
is | mentioned by |
dbSNP | rs104894959 |
dbSNP (classic) | rs104894959 |
ClinGen | rs104894959 |
ebi | rs104894959 |
HLI | rs104894959 |
Exac | rs104894959 |
Gnomad | rs104894959 |
Varsome | rs104894959 |
LitVar | rs104894959 |
Map | rs104894959 |
PheGenI | rs104894959 |
Biobank | rs104894959 |
1000 genomes | rs104894959 |
hgdp | rs104894959 |
ensembl | rs104894959 |
geneview | rs104894959 |
scholar | rs104894959 |
rs104894959 | |
pharmgkb | rs104894959 |
gwascentral | rs104894959 |
openSNP | rs104894959 |
23andMe | rs104894959 |
SNPshot | rs104894959 |
SNPdbe | rs104894959 |
MSV3d | rs104894959 |
GWAS Ctlg | rs104894959 |
Y Chrom | rs104894959 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894959(G;G) |
Alt | rs104894959(G;G) |
Reference | Rs104894959(C;C) |
Significance | Pathogenic |
Disease | 46 |
Variation | info |
Gene | SRY |
CLNDBN | 46,XY sex reversal, type 1 46,XY true hermaphroditism, SRY-related |
Reversed | 1 |
HGVS | NC_000024.9:g.2655375G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000010394.7, RCV000010395.5, |