rs758948621

Orientation

plus

Stabilized

plus

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

Make rs758948621(A;C)

Make rs758948621(C;C)

Reference

GRCh38.p2 38.2/144

Chromosome

8

Position

93797329

Gene

TMEM67

is a	snp
is	mentioned by
dbSNP	rs758948621
dbSNP (classic)	rs758948621
ClinGen	rs758948621
ebi	rs758948621
HLI	rs758948621
Exac	rs758948621
Gnomad	rs758948621
Varsome	rs758948621
LitVar	rs758948621
Map	rs758948621
PheGenI	rs758948621
Biobank	rs758948621
1000 genomes	rs758948621
hgdp	rs758948621
ensembl	rs758948621
geneview	rs758948621
scholar	rs758948621
google	rs758948621
pharmgkb	rs758948621
gwascentral	rs758948621
openSNP	rs758948621
23andMe	rs758948621
SNPshot	rs758948621
SNPdbe	rs758948621
MSV3d	rs758948621
GWAS Ctlg	rs758948621

Max Magnitude

0

ClinVar
Risk	rs758948621(C;C)
Alt	rs758948621(C;C)
Reference	Rs758948621(A;A)
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.94809557A>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001441.4, RCV000201576.1,