rs606231178
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GAGA;GAGA) | 0 | common in clinvar |
Make rs606231178(-;-) |
Make rs606231178(-;GAGA) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | Y |
Position | 2787237 |
Gene | SRY |
is a | snp |
is | mentioned by |
dbSNP | rs606231178 |
dbSNP (classic) | rs606231178 |
ClinGen | rs606231178 |
ebi | rs606231178 |
HLI | rs606231178 |
Exac | rs606231178 |
Gnomad | rs606231178 |
Varsome | rs606231178 |
LitVar | rs606231178 |
Map | rs606231178 |
PheGenI | rs606231178 |
Biobank | rs606231178 |
1000 genomes | rs606231178 |
hgdp | rs606231178 |
ensembl | rs606231178 |
geneview | rs606231178 |
scholar | rs606231178 |
rs606231178 | |
pharmgkb | rs606231178 |
gwascentral | rs606231178 |
openSNP | rs606231178 |
23andMe | rs606231178 |
SNPshot | rs606231178 |
SNPdbe | rs606231178 |
MSV3d | rs606231178 |
GWAS Ctlg | rs606231178 |
Y Chrom | rs606231178 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs606231178(-;-) |
Alt | rs606231178(-;-) |
Reference | Rs606231178(GAGA;GAGA) |
Significance | Pathogenic |
Disease | 46 |
Variation | info |
Gene | SRY |
CLNDBN | 46,XY sex reversal, type 1 |
Reversed | 1 |
HGVS | NC_000024.9:g.2655278_2655281delTCTC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000010390.6, |