rs796052129

Orientation

plus

Stabilized

plus

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

Make rs796052129(A;T)

Make rs796052129(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

14

Position

58457934

Gene

KIAA0586

is a	snp
is	mentioned by
dbSNP	rs796052129
dbSNP (classic)	rs796052129
ClinGen	rs796052129
ebi	rs796052129
HLI	rs796052129
Exac	rs796052129
Gnomad	rs796052129
Varsome	rs796052129
LitVar	rs796052129
Map	rs796052129
PheGenI	rs796052129
Biobank	rs796052129
1000 genomes	rs796052129
hgdp	rs796052129
ensembl	rs796052129
geneview	rs796052129
scholar	rs796052129
google	rs796052129
pharmgkb	rs796052129
gwascentral	rs796052129
openSNP	rs796052129
23andMe	rs796052129
SNPshot	rs796052129
SNPdbe	rs796052129
MSV3d	rs796052129
GWAS Ctlg	rs796052129

Max Magnitude

0

ClinVar
Risk	rs796052129(T;T)
Alt	rs796052129(T;T)
Reference	Rs796052129(A;A)
Significance	Pathogenic
Disease	Joubert syndrome 23
Variation	info
Gene	KIAA0586
CLNDBN	Joubert syndrome 23
Reversed	0
HGVS	NC_000014.8:g.58924652A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000186594.4,