rs863225232

Orientation

plus

Stabilized

plus

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

Make rs863225232(C;T)

Make rs863225232(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

8

Position

93782402

Gene

TMEM67

is a	snp
is	mentioned by
dbSNP	rs863225232
dbSNP (classic)	rs863225232
ClinGen	rs863225232
ebi	rs863225232
HLI	rs863225232
Exac	rs863225232
Gnomad	rs863225232
Varsome	rs863225232
LitVar	rs863225232
Map	rs863225232
PheGenI	rs863225232
Biobank	rs863225232
1000 genomes	rs863225232
hgdp	rs863225232
ensembl	rs863225232
geneview	rs863225232
scholar	rs863225232
google	rs863225232
pharmgkb	rs863225232
gwascentral	rs863225232
openSNP	rs863225232
23andMe	rs863225232
SNPshot	rs863225232
SNPdbe	rs863225232
MSV3d	rs863225232
GWAS Ctlg	rs863225232

Max Magnitude

0

ClinVar
Risk	rs863225232(T;T)
Alt	rs863225232(T;T)
Reference	Rs863225232(C;C)
Significance	Pathogenic
Disease	Joubert syndrome 6
Variation	info
Gene	TMEM67
CLNDBN	Joubert syndrome 6
Reversed	0
HGVS	NC_000008.10:g.94794630C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000201590.1,