rs193929391
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs193929391(-;ATGGC) |
Make rs193929391(ATGGC;ATGGC) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 66025431 |
Gene | CATSPER1 |
is a | snp |
is | mentioned by |
dbSNP | rs193929391 |
dbSNP (classic) | rs193929391 |
ClinGen | rs193929391 |
ebi | rs193929391 |
HLI | rs193929391 |
Exac | rs193929391 |
Gnomad | rs193929391 |
Varsome | rs193929391 |
LitVar | rs193929391 |
Map | rs193929391 |
PheGenI | rs193929391 |
Biobank | rs193929391 |
1000 genomes | rs193929391 |
hgdp | rs193929391 |
ensembl | rs193929391 |
geneview | rs193929391 |
scholar | rs193929391 |
rs193929391 | |
pharmgkb | rs193929391 |
gwascentral | rs193929391 |
openSNP | rs193929391 |
23andMe | rs193929391 |
SNPshot | rs193929391 |
SNPdbe | rs193929391 |
MSV3d | rs193929391 |
GWAS Ctlg | rs193929391 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193929391(ATGGC;ATGGC) |
Alt | rs193929391(ATGGC;ATGGC) |
Reference | Rs193929391(-;-) |
Significance | Pathogenic |
Disease | CATSPER-Related Male Infertility |
Variation | info |
Gene | LOC101927968 CATSPER1 |
CLNDBN | CATSPER-Related Male Infertility |
Reversed | 1 |
HGVS | NC_000011.9:g.65792903_65792907dupGCCAT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000004651.4, |
[PMID 19344877] Human male infertility caused by mutations in the CATSPER1 channel protein.