rs121918128

Orientation

minus

Stabilized

minus

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

Make rs121918128(A;A)

Make rs121918128(A;G)

Reference

GRCh38 38.1/141

Chromosome

9

Position

136430391

Gene

INPP5E

is a	snp
is	mentioned by
dbSNP	rs121918128
dbSNP (classic)	rs121918128
ClinGen	rs121918128
ebi	rs121918128
HLI	rs121918128
Exac	rs121918128
Gnomad	rs121918128
Varsome	rs121918128
LitVar	rs121918128
Map	rs121918128
PheGenI	rs121918128
Biobank	rs121918128
1000 genomes	rs121918128
hgdp	rs121918128
ensembl	rs121918128
geneview	rs121918128
scholar	rs121918128
google	rs121918128
pharmgkb	rs121918128
gwascentral	rs121918128
openSNP	rs121918128
23andMe	rs121918128
SNPshot	rs121918128
SNPdbe	rs121918128
MSV3d	rs121918128
GWAS Ctlg	rs121918128

Max Magnitude

0

OMIM	613037
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121918128(A;A)
Alt	rs121918128(A;A)
Reference	Rs121918128(G;G)
Significance	Pathogenic
Disease	Joubert syndrome 1
Variation	info
Gene	INPP5E
CLNDBN	Joubert syndrome 1
Reversed	1
HGVS	NC_000009.11:g.139324843C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000022403.3,