rs797046045

Orientation

plus

Stabilized

plus

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

Make rs797046045(G;T)

Make rs797046045(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

8

Position

93755851

Gene

TMEM67

is a	snp
is	mentioned by
dbSNP	rs797046045
dbSNP (classic)	rs797046045
ClinGen	rs797046045
ebi	rs797046045
HLI	rs797046045
Exac	rs797046045
Gnomad	rs797046045
Varsome	rs797046045
LitVar	rs797046045
Map	rs797046045
PheGenI	rs797046045
Biobank	rs797046045
1000 genomes	rs797046045
hgdp	rs797046045
ensembl	rs797046045
geneview	rs797046045
scholar	rs797046045
google	rs797046045
pharmgkb	rs797046045
gwascentral	rs797046045
openSNP	rs797046045
23andMe	rs797046045
SNPshot	rs797046045
SNPdbe	rs797046045
MSV3d	rs797046045
GWAS Ctlg	rs797046045

Max Magnitude

0

ClinVar
Risk	rs797046045(T;T)
Alt	rs797046045(T;T)
Reference	Rs797046045(G;G)
Significance	Probable-Pathogenic
Disease	not specified Joubert syndrome 6
Variation	info
Gene	TMEM67
CLNDBN	not specified Joubert syndrome 6
Reversed	0
HGVS	NC_000008.10:g.94768079G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000192720.1, RCV000201747.1,