rs752362727

Orientation

plus

Stabilized

plus

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

Make rs752362727(C;T)

Make rs752362727(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

8

Position

93786255

Gene

TMEM67

is a	snp
is	mentioned by
dbSNP	rs752362727
dbSNP (classic)	rs752362727
ClinGen	rs752362727
ebi	rs752362727
HLI	rs752362727
Exac	rs752362727
Gnomad	rs752362727
Varsome	rs752362727
LitVar	rs752362727
Map	rs752362727
PheGenI	rs752362727
Biobank	rs752362727
1000 genomes	rs752362727
hgdp	rs752362727
ensembl	rs752362727
geneview	rs752362727
scholar	rs752362727
google	rs752362727
pharmgkb	rs752362727
gwascentral	rs752362727
openSNP	rs752362727
23andMe	rs752362727
SNPshot	rs752362727
SNPdbe	rs752362727
MSV3d	rs752362727
GWAS Ctlg	rs752362727

Max Magnitude

0

ClinVar
Risk	rs752362727(T;T)
Alt	rs752362727(T;T)
Reference	Rs752362727(C;C)
Significance	Pathogenic
Disease	Joubert syndrome 6 Agenesis of cerebellar vermis Oligohydramnios Renal cyst
Variation	info
Gene	TMEM67
CLNDBN	Joubert syndrome 6 Agenesis of cerebellar vermis Oligohydramnios Renal cyst
Reversed	0
HGVS	NC_000008.10:g.94798483C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000201784.1, RCV000414925.1,