rs753085250

Orientation

plus

Stabilized

plus

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

Make rs753085250(C;C)

Make rs753085250(C;T)

Reference

GRCh38.p2 38.2/146

Chromosome

6

Position

135455928

Gene

AHI1

is a	snp
is	mentioned by
dbSNP	rs753085250
dbSNP (classic)	rs753085250
ClinGen	rs753085250
ebi	rs753085250
HLI	rs753085250
Exac	rs753085250
Gnomad	rs753085250
Varsome	rs753085250
LitVar	rs753085250
Map	rs753085250
PheGenI	rs753085250
Biobank	rs753085250
1000 genomes	rs753085250
hgdp	rs753085250
ensembl	rs753085250
geneview	rs753085250
scholar	rs753085250
google	rs753085250
pharmgkb	rs753085250
gwascentral	rs753085250
openSNP	rs753085250
23andMe	rs753085250
SNPshot	rs753085250
SNPdbe	rs753085250
MSV3d	rs753085250
GWAS Ctlg	rs753085250

Max Magnitude

0

ClinVar
Risk	rs753085250(C;C)
Alt	rs753085250(C;C)
Reference	Rs753085250(T;T)
Significance	Pathogenic
Disease	Joubert syndrome 3
Variation	info
Gene	AHI1
CLNDBN	Joubert syndrome 3
Reversed	0
HGVS	NC_000006.11:g.135777066T>C
CLNSRC
CLNACC	RCV000201545.1,