rs116647652

Orientation

plus

Stabilized

plus

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

Make rs116647652(C;T)

Make rs116647652(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

8

Position

93786285

Gene

TMEM67

is a	snp
is	mentioned by
dbSNP	rs116647652
dbSNP (old)	rs116647652
ClinGen	rs116647652
ebi	rs116647652
HLI	rs116647652
Exac	rs116647652
Gnomad	rs116647652
Varsome	rs116647652
Map	rs116647652
PheGenI	rs116647652
Biobank	rs116647652
1000 genomes	rs116647652
hgdp	rs116647652
ensembl	rs116647652
gopubmed	rs116647652
geneview	rs116647652
scholar	rs116647652
google	rs116647652
pharmgkb	rs116647652
gwascentral	rs116647652
openSNP	rs116647652
23andMe	rs116647652
23andMe all	rs116647652
SNPshot	rs116647652
SNPdbe	rs116647652
MSV3d	rs116647652
GWAS Ctlg	rs116647652

Max Magnitude

0

ClinVar
Risk	rs116647652(A;A) rs116647652(T;T)
Alt	rs116647652(A;A) rs116647652(T;T)
Reference	Rs116647652(C;C)
Significance	Pathogenic
Disease	not specified Joubert syndrome 6
Variation	info
Gene	TMEM67
CLNDBN	not specified Joubert syndrome 6
Reversed	0
HGVS	NC_000008.10:g.94798513C>A; NC_000008.10:g.94798513C>T
CLNSRC
CLNACC	RCV000429502.1, RCV000201701.1,