rs750950408

Orientation

plus

Stabilized

plus

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

Make rs750950408(A;A)

Make rs750950408(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

8

Position

93765414

Gene

TMEM67

is a	snp
is	mentioned by
dbSNP	rs750950408
dbSNP (classic)	rs750950408
ClinGen	rs750950408
ebi	rs750950408
HLI	rs750950408
Exac	rs750950408
Gnomad	rs750950408
Varsome	rs750950408
LitVar	rs750950408
Map	rs750950408
PheGenI	rs750950408
Biobank	rs750950408
1000 genomes	rs750950408
hgdp	rs750950408
ensembl	rs750950408
geneview	rs750950408
scholar	rs750950408
google	rs750950408
pharmgkb	rs750950408
gwascentral	rs750950408
openSNP	rs750950408
23andMe	rs750950408
SNPshot	rs750950408
SNPdbe	rs750950408
MSV3d	rs750950408
GWAS Ctlg	rs750950408

Max Magnitude

0

ClinVar
Risk	rs750950408(A;A)
Alt	rs750950408(A;A)
Reference	Rs750950408(G;G)
Significance	Pathogenic
Disease	Joubert syndrome 6
Variation	info
Gene	TMEM67
CLNDBN	Joubert syndrome 6
Reversed	0
HGVS	NC_000008.10:g.94777642G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000201683.1,