rs387906269

Orientation

minus

Stabilized

minus

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

Make rs387906269(-;-)

Make rs387906269(-;GG)

Reference

GRCh38 38.1/141

Chromosome

6

Position

135323226

Gene

AHI1

is a	snp
is	mentioned by
dbSNP	rs387906269
dbSNP (classic)	rs387906269
ClinGen	rs387906269
ebi	rs387906269
HLI	rs387906269
Exac	rs387906269
Gnomad	rs387906269
Varsome	rs387906269
LitVar	rs387906269
Map	rs387906269
PheGenI	rs387906269
Biobank	rs387906269
1000 genomes	rs387906269
hgdp	rs387906269
ensembl	rs387906269
geneview	rs387906269
scholar	rs387906269
google	rs387906269
pharmgkb	rs387906269
gwascentral	rs387906269
openSNP	rs387906269
23andMe	rs387906269
SNPshot	rs387906269
SNPdbe	rs387906269
MSV3d	rs387906269
GWAS Ctlg	rs387906269

Max Magnitude

0

ClinVar
Risk	rs387906269(-;-)
Alt	rs387906269(-;-)
Reference	Rs387906269(GG;GG)
Significance	Pathogenic
Disease	Joubert syndrome 3
Variation	info
Gene	AHI1
CLNDBN	Joubert syndrome 3
Reversed	1
HGVS	NC_000006.11:g.135644364_135644365delCC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002090.5,