rs267607114

Orientation

plus

Stabilized

plus

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

Make rs267607114(A;A)

Make rs267607114(A;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

93793256

Gene

TMEM67

is a	snp
is	mentioned by
dbSNP	rs267607114
dbSNP (classic)	rs267607114
ClinGen	rs267607114
ebi	rs267607114
HLI	rs267607114
Exac	rs267607114
Gnomad	rs267607114
Varsome	rs267607114
LitVar	rs267607114
Map	rs267607114
PheGenI	rs267607114
Biobank	rs267607114
1000 genomes	rs267607114
hgdp	rs267607114
ensembl	rs267607114
geneview	rs267607114
scholar	rs267607114
google	rs267607114
pharmgkb	rs267607114
gwascentral	rs267607114
openSNP	rs267607114
23andMe	rs267607114
SNPshot	rs267607114
SNPdbe	rs267607114
MSV3d	rs267607114
GWAS Ctlg	rs267607114

Max Magnitude

0

ClinVar
Risk	rs267607114(A;A)
Alt	rs267607114(A;A)
Reference	Rs267607114(G;G)
Significance	Pathogenic
Disease	Joubert syndrome 6
Variation	info
Gene	TMEM67
CLNDBN	Joubert syndrome 6
Reversed	0
HGVS	NC_000008.10:g.94805484G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001440.5,