rs121434351

Orientation

minus

Stabilized

minus

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

Make rs121434351(A;A)

Make rs121434351(A;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

135433125

Gene

AHI1

is a	snp
is	mentioned by
dbSNP	rs121434351
dbSNP (classic)	rs121434351
ClinGen	rs121434351
ebi	rs121434351
HLI	rs121434351
Exac	rs121434351
Gnomad	rs121434351
Varsome	rs121434351
LitVar	rs121434351
Map	rs121434351
PheGenI	rs121434351
Biobank	rs121434351
1000 genomes	rs121434351
hgdp	rs121434351
ensembl	rs121434351
geneview	rs121434351
scholar	rs121434351
google	rs121434351
pharmgkb	rs121434351
gwascentral	rs121434351
openSNP	rs121434351
23andMe	rs121434351
SNPshot	rs121434351
SNPdbe	rs121434351
MSV3d	rs121434351
GWAS Ctlg	rs121434351

Max Magnitude

0

OMIM	608894
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121434351(A;A)
Alt	rs121434351(A;A)
Reference	Rs121434351(G;G)
Significance	Pathogenic
Disease	Joubert syndrome 3 Joubert syndrome
Variation	info
Gene	AHI1
CLNDBN	Joubert syndrome 3 Joubert syndrome
Reversed	1
HGVS	NC_000006.11:g.135754263C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002092.5, RCV000463110.1,