rs121434349

Orientation

minus

Stabilized

minus

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

Make rs121434349(C;T)

Make rs121434349(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

135455775

Gene

AHI1

is a	snp
is	mentioned by
dbSNP	rs121434349
dbSNP (classic)	rs121434349
ClinGen	rs121434349
ebi	rs121434349
HLI	rs121434349
Exac	rs121434349
Gnomad	rs121434349
Varsome	rs121434349
LitVar	rs121434349
Map	rs121434349
PheGenI	rs121434349
Biobank	rs121434349
1000 genomes	rs121434349
hgdp	rs121434349
ensembl	rs121434349
geneview	rs121434349
scholar	rs121434349
google	rs121434349
pharmgkb	rs121434349
gwascentral	rs121434349
openSNP	rs121434349
23andMe	rs121434349
SNPshot	rs121434349
SNPdbe	rs121434349
MSV3d	rs121434349
GWAS Ctlg	rs121434349

Max Magnitude

0

OMIM	608894
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121434349(A;A) rs121434349(T;T)
Alt	rs121434349(A;A) rs121434349(T;T)
Reference	Rs121434349(C;C)
Significance	Pathogenic
Disease	Joubert syndrome 3
Variation	info
Gene	AHI1
CLNDBN	Joubert syndrome 3
Reversed	1
HGVS	NC_000006.11:g.135776913G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002088.4,