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rs193929391

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs193929391(-;-)
Make rs193929391(-;ATGGC)
Make rs193929391(ATGGC;ATGGC)
ReferenceGRCh38 38.1/141
Chromosome11
Position66025431
GeneCATSPER1
is asnp
is mentioned by
dbSNPrs193929391
ebirs193929391
HLIrs193929391
Exacrs193929391
Varsomers193929391
Maprs193929391
PheGenIrs193929391
hapmaprs193929391
1000 genomesrs193929391
hgdprs193929391
ensemblrs193929391
gopubmedrs193929391
geneviewrs193929391
scholarrs193929391
googlers193929391
pharmgkbrs193929391
gwascentralrs193929391
openSNPrs193929391
23andMers193929391
23andMe allrs193929391
SNP Nexus

SNPshotrs193929391
SNPdbers193929391
MSV3drs193929391
GWAS Ctlgrs193929391
Max Magnitude0
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 19344877OA-icon.png] Human male infertility caused by mutations in the CATSPER1 channel protein.