rs386834186

Orientation

plus

Stabilized

plus

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

Make rs386834186(-;-)

Make rs386834186(-;AT)

Reference

GRCh38 38.1/141

Chromosome

8

Position

93791282

Gene

TMEM67

is a	snp
is	mentioned by
dbSNP	rs386834186
dbSNP (classic)	rs386834186
ClinGen	rs386834186
ebi	rs386834186
HLI	rs386834186
Exac	rs386834186
Gnomad	rs386834186
Varsome	rs386834186
LitVar	rs386834186
Map	rs386834186
PheGenI	rs386834186
Biobank	rs386834186
1000 genomes	rs386834186
hgdp	rs386834186
ensembl	rs386834186
geneview	rs386834186
scholar	rs386834186
google	rs386834186
pharmgkb	rs386834186
gwascentral	rs386834186
openSNP	rs386834186
23andMe	rs386834186
SNPshot	rs386834186
SNPdbe	rs386834186
MSV3d	rs386834186
GWAS Ctlg	rs386834186

Max Magnitude

0

ClinVar
Risk	rs386834186(-;-)
Alt	rs386834186(-;-)
Reference	Rs386834186(AT;AT)
Significance	Probable-Pathogenic
Disease	Meckel syndrome type 3
Variation	info
Gene	TMEM67
CLNDBN	Meckel syndrome type 3
Reversed	0
HGVS	NC_000008.10:g.94803510_94803511delAT
CLNSRC	ClinVar
CLNACC	RCV000050181.1,

[PMID 20232449] Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.