rs267607119

Orientation

plus

Stabilized

plus

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

Make rs267607119(C;C)

Make rs267607119(C;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

93808898

Gene

TMEM67

is a	snp
is	mentioned by
dbSNP	rs267607119
dbSNP (classic)	rs267607119
ClinGen	rs267607119
ebi	rs267607119
HLI	rs267607119
Exac	rs267607119
Gnomad	rs267607119
Varsome	rs267607119
LitVar	rs267607119
Map	rs267607119
PheGenI	rs267607119
Biobank	rs267607119
1000 genomes	rs267607119
hgdp	rs267607119
ensembl	rs267607119
geneview	rs267607119
scholar	rs267607119
google	rs267607119
pharmgkb	rs267607119
gwascentral	rs267607119
openSNP	rs267607119
23andMe	rs267607119
SNPshot	rs267607119
SNPdbe	rs267607119
MSV3d	rs267607119
GWAS Ctlg	rs267607119

Max Magnitude

0

ClinVar
Risk	rs267607119(C;C)
Alt	rs267607119(C;C)
Reference	Rs267607119(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.94821126T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001445.5, RCV000001446.6,