rs1064792947

Orientation

minus

Stabilized

minus

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

Chromosome

21

Position

42482620

Gene

RSPH1

is a	snp
is	mentioned by
dbSNP	rs1064792947
dbSNP (classic)	rs1064792947
ClinGen	rs1064792947
ebi	rs1064792947
HLI	rs1064792947
Exac	rs1064792947
Gnomad	rs1064792947
Varsome	rs1064792947
LitVar	rs1064792947
Map	rs1064792947
PheGenI	rs1064792947
Biobank	rs1064792947
1000 genomes	rs1064792947
hgdp	rs1064792947
ensembl	rs1064792947
geneview	rs1064792947
scholar	rs1064792947
google	rs1064792947
pharmgkb	rs1064792947
gwascentral	rs1064792947
openSNP	rs1064792947
23andMe	rs1064792947
SNPshot	rs1064792947
SNPdbe	rs1064792947
MSV3d	rs1064792947
GWAS Ctlg	rs1064792947

Max Magnitude

0

ClinVar
Risk	rs1064792947(-;-)
Alt	rs1064792947(-;-)
Reference	Rs1064792947(GTAAGTTGCGGAGCATG;GTAAGTTGCGGAGCATG)
Significance	Pathogenic
Disease	Primary ciliary dyskinesia
Variation	info
Gene	RSPH1
CLNDBN	Primary ciliary dyskinesia
Reversed	1
HGVS	NC_000021.8:g.43902730_43902746del17
CLNSRC
CLNACC	RCV000462475.1,