rs796052119

Orientation

minus

Stabilized

minus

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

Make rs796052119(C;T)

Make rs796052119(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

6

Position

158982502

Gene

RSPH3

is a	snp
is	mentioned by
dbSNP	rs796052119
dbSNP (classic)	rs796052119
ClinGen	rs796052119
ebi	rs796052119
HLI	rs796052119
Exac	rs796052119
Gnomad	rs796052119
Varsome	rs796052119
LitVar	rs796052119
Map	rs796052119
PheGenI	rs796052119
Biobank	rs796052119
1000 genomes	rs796052119
hgdp	rs796052119
ensembl	rs796052119
geneview	rs796052119
scholar	rs796052119
google	rs796052119
pharmgkb	rs796052119
gwascentral	rs796052119
openSNP	rs796052119
23andMe	rs796052119
SNPshot	rs796052119
SNPdbe	rs796052119
MSV3d	rs796052119
GWAS Ctlg	rs796052119

Max Magnitude

0

ClinVar
Risk	rs796052119(T;T)
Alt	rs796052119(T;T)
Reference	Rs796052119(C;C)
Significance	Pathogenic
Disease	Ciliary dyskinesia
Variation	info
Gene	RSPH3
CLNDBN	Ciliary dyskinesia, primary, 32
Reversed	1
HGVS	NC_000006.11:g.159403534G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000186571.2,