rs751309268

Orientation

plus

Stabilized

plus

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

Make rs751309268(A;A)

Make rs751309268(A;C)

Reference

GRCh38.p2 38.2/146

Chromosome

8

Position

93755854

Gene

TMEM67

is a	snp
is	mentioned by
dbSNP	rs751309268
dbSNP (classic)	rs751309268
ClinGen	rs751309268
ebi	rs751309268
HLI	rs751309268
Exac	rs751309268
Gnomad	rs751309268
Varsome	rs751309268
LitVar	rs751309268
Map	rs751309268
PheGenI	rs751309268
Biobank	rs751309268
1000 genomes	rs751309268
hgdp	rs751309268
ensembl	rs751309268
geneview	rs751309268
scholar	rs751309268
google	rs751309268
pharmgkb	rs751309268
gwascentral	rs751309268
openSNP	rs751309268
23andMe	rs751309268
SNPshot	rs751309268
SNPdbe	rs751309268
MSV3d	rs751309268
GWAS Ctlg	rs751309268

Max Magnitude

0

ClinVar
Risk	rs751309268(A;A)
Alt	rs751309268(A;A)
Reference	Rs751309268(C;C)
Significance	Pathogenic
Disease	Joubert syndrome 6
Variation	info
Gene	TMEM67
CLNDBN	Joubert syndrome 6
Reversed	0
HGVS	NC_000008.10:g.94768082C>A
CLNSRC
CLNACC	RCV000201716.1,