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rs193929390

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs193929390(-;-)
Make rs193929390(-;T)
Make rs193929390(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position66025840
GeneCATSPER1
is asnp
is mentioned by
dbSNPrs193929390
ebirs193929390
HLIrs193929390
Exacrs193929390
Varsomers193929390
Maprs193929390
PheGenIrs193929390
hapmaprs193929390
1000 genomesrs193929390
hgdprs193929390
ensemblrs193929390
gopubmedrs193929390
geneviewrs193929390
scholarrs193929390
googlers193929390
pharmgkbrs193929390
gwascentralrs193929390
openSNPrs193929390
23andMers193929390
23andMe allrs193929390
SNP Nexus

SNPshotrs193929390
SNPdbers193929390
MSV3drs193929390
GWAS Ctlgrs193929390
Max Magnitude0
ClinVar
Risk rs193929390(T;T)
Alt rs193929390(T;T)
Reference rs193929390(;)
Significance Pathogenic
Disease CATSPER-Related Male Infertility
Variation info
Gene LOC101927968 CATSPER1
CLNDBN CATSPER-Related Male Infertility
Reversed 1
HGVS NC_000011.9:g.65793312dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000004650.3,


[PMID 19344877OA-icon.png] Human male infertility caused by mutations in the CATSPER1 channel protein.