rs121434350

Orientation

minus

Stabilized

minus

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

Make rs121434350(A;A)

Make rs121434350(A;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

135455750

Gene

AHI1

is a	snp
is	mentioned by
dbSNP	rs121434350
dbSNP (classic)	rs121434350
ClinGen	rs121434350
ebi	rs121434350
HLI	rs121434350
Exac	rs121434350
Gnomad	rs121434350
Varsome	rs121434350
LitVar	rs121434350
Map	rs121434350
PheGenI	rs121434350
Biobank	rs121434350
1000 genomes	rs121434350
hgdp	rs121434350
ensembl	rs121434350
geneview	rs121434350
scholar	rs121434350
google	rs121434350
pharmgkb	rs121434350
gwascentral	rs121434350
openSNP	rs121434350
23andMe	rs121434350
SNPshot	rs121434350
SNPdbe	rs121434350
MSV3d	rs121434350
GWAS Ctlg	rs121434350

Max Magnitude

0

OMIM	608894
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121434350(A;A)
Alt	rs121434350(A;A)
Reference	Rs121434350(T;T)
Significance	Pathogenic
Disease	Joubert syndrome 3 Global developmental delay Typical Joubert syndrome MRI findings
Variation	info
Gene	AHI1
CLNDBN	Joubert syndrome 3 Global developmental delay Typical Joubert syndrome MRI findings
Reversed	1
HGVS	NC_000006.11:g.135776888A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002089.5, RCV000162132.1,