rs786200867

Orientation

plus

Stabilized

plus

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

Make rs786200867(G;T)

Make rs786200867(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

8

Position

93808957

Gene

TMEM67

is a	snp
is	mentioned by
dbSNP	rs786200867
dbSNP (classic)	rs786200867
ClinGen	rs786200867
ebi	rs786200867
HLI	rs786200867
Exac	rs786200867
Gnomad	rs786200867
Varsome	rs786200867
LitVar	rs786200867
Map	rs786200867
PheGenI	rs786200867
Biobank	rs786200867
1000 genomes	rs786200867
hgdp	rs786200867
ensembl	rs786200867
geneview	rs786200867
scholar	rs786200867
google	rs786200867
pharmgkb	rs786200867
gwascentral	rs786200867
openSNP	rs786200867
23andMe	rs786200867
SNPshot	rs786200867
SNPdbe	rs786200867
MSV3d	rs786200867
GWAS Ctlg	rs786200867

Max Magnitude

0

ClinVar
Risk	rs786200867(T;T)
Alt	rs786200867(T;T)
Reference	Rs786200867(G;G)
Significance	Pathogenic
Disease	COACH syndrome Joubert syndrome 6
Variation	info
Gene	TMEM67
CLNDBN	COACH syndrome Joubert syndrome 6
Reversed	0
HGVS	NC_000008.10:g.94821185G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001447.5, RCV000201565.1,