rs794727174

Orientation

minus

Stabilized

minus

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

Make rs794727174(C;T)

Make rs794727174(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

6

Position

135431299

Gene

AHI1

is a	snp
is	mentioned by
dbSNP	rs794727174
dbSNP (classic)	rs794727174
ClinGen	rs794727174
ebi	rs794727174
HLI	rs794727174
Exac	rs794727174
Gnomad	rs794727174
Varsome	rs794727174
LitVar	rs794727174
Map	rs794727174
PheGenI	rs794727174
Biobank	rs794727174
1000 genomes	rs794727174
hgdp	rs794727174
ensembl	rs794727174
geneview	rs794727174
scholar	rs794727174
google	rs794727174
pharmgkb	rs794727174
gwascentral	rs794727174
openSNP	rs794727174
23andMe	rs794727174
SNPshot	rs794727174
SNPdbe	rs794727174
MSV3d	rs794727174
GWAS Ctlg	rs794727174

Max Magnitude

0

ClinVar
Risk	rs794727174(T;T)
Alt	rs794727174(T;T)
Reference	Rs794727174(C;C)
Significance	Pathogenic
Disease	not specified Joubert syndrome 3
Variation	info
Gene	AHI1
CLNDBN	not specified Joubert syndrome 3
Reversed	1
HGVS	NC_000006.11:g.135752437G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000175088.1, RCV000185588.3,