rs869312856

Orientation

plus

Stabilized

plus

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

Make rs869312856(AGCT;GA)

Make rs869312856(GA;GA)

Reference

GRCh38.p2 38.2/147

Chromosome

14

Position

58456719

Gene

KIAA0586

is a	snp
is	mentioned by
dbSNP	rs869312856
dbSNP (classic)	rs869312856
ClinGen	rs869312856
ebi	rs869312856
HLI	rs869312856
Exac	rs869312856
Gnomad	rs869312856
Varsome	rs869312856
LitVar	rs869312856
Map	rs869312856
PheGenI	rs869312856
Biobank	rs869312856
1000 genomes	rs869312856
hgdp	rs869312856
ensembl	rs869312856
geneview	rs869312856
scholar	rs869312856
google	rs869312856
pharmgkb	rs869312856
gwascentral	rs869312856
openSNP	rs869312856
23andMe	rs869312856
SNPshot	rs869312856
SNPdbe	rs869312856
MSV3d	rs869312856
GWAS Ctlg	rs869312856

Max Magnitude

0

ClinVar
Risk	rs869312856(GA;GA)
Alt	rs869312856(GA;GA)
Reference	Rs869312856(AGCT;AGCT)
Significance	Pathogenic
Disease	Joubert syndrome 23
Variation	info
Gene	KIAA0586
CLNDBN	Joubert syndrome 23
Reversed	0
HGVS	NC_000014.8:g.58923437_58923440delAGCTinsGA
CLNSRC
CLNACC	RCV000201567.1,