rs267607115

Orientation

plus

Stabilized

plus

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

Make rs267607115(C;C)

Make rs267607115(C;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

93795503

Gene

TMEM67

is a	snp
is	mentioned by
dbSNP	rs267607115
dbSNP (classic)	rs267607115
ClinGen	rs267607115
ebi	rs267607115
HLI	rs267607115
Exac	rs267607115
Gnomad	rs267607115
Varsome	rs267607115
LitVar	rs267607115
Map	rs267607115
PheGenI	rs267607115
Biobank	rs267607115
1000 genomes	rs267607115
hgdp	rs267607115
ensembl	rs267607115
geneview	rs267607115
scholar	rs267607115
google	rs267607115
pharmgkb	rs267607115
gwascentral	rs267607115
openSNP	rs267607115
23andMe	rs267607115
SNPshot	rs267607115
SNPdbe	rs267607115
MSV3d	rs267607115
GWAS Ctlg	rs267607115

Max Magnitude

0

ClinVar
Risk	rs267607115(C;C)
Alt	rs267607115(C;C)
Reference	Rs267607115(T;T)
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.94807731T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001449.3, RCV000201677.1,