rs193929390

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;-)	0	common in clinvar

Make rs193929390(-;T)

Make rs193929390(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

66025840

Gene

CATSPER1

is a	snp
is	mentioned by
dbSNP	rs193929390
dbSNP (classic)	rs193929390
ClinGen	rs193929390
ebi	rs193929390
HLI	rs193929390
Exac	rs193929390
Gnomad	rs193929390
Varsome	rs193929390
LitVar	rs193929390
Map	rs193929390
PheGenI	rs193929390
Biobank	rs193929390
1000 genomes	rs193929390
hgdp	rs193929390
ensembl	rs193929390
geneview	rs193929390
scholar	rs193929390
google	rs193929390
pharmgkb	rs193929390
gwascentral	rs193929390
openSNP	rs193929390
23andMe	rs193929390
SNPshot	rs193929390
SNPdbe	rs193929390
MSV3d	rs193929390
GWAS Ctlg	rs193929390

Max Magnitude

0

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 19344877] Human male infertility caused by mutations in the CATSPER1 channel protein.