rs386834195

Orientation

plus

Stabilized

plus

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

Make rs386834195(G;T)

Make rs386834195(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

93808942

Gene

TMEM67

is a	snp
is	mentioned by
dbSNP	rs386834195
dbSNP (classic)	rs386834195
ClinGen	rs386834195
ebi	rs386834195
HLI	rs386834195
Exac	rs386834195
Gnomad	rs386834195
Varsome	rs386834195
LitVar	rs386834195
Map	rs386834195
PheGenI	rs386834195
Biobank	rs386834195
1000 genomes	rs386834195
hgdp	rs386834195
ensembl	rs386834195
geneview	rs386834195
scholar	rs386834195
google	rs386834195
pharmgkb	rs386834195
gwascentral	rs386834195
openSNP	rs386834195
23andMe	rs386834195
SNPshot	rs386834195
SNPdbe	rs386834195
MSV3d	rs386834195
GWAS Ctlg	rs386834195

Max Magnitude

0

ClinVar
Risk	rs386834195(T;T)
Alt	rs386834195(T;T)
Reference	Rs386834195(G;G)
Significance	Probable-Pathogenic
Disease	Meckel syndrome type 3
Variation	info
Gene	TMEM67
CLNDBN	Meckel syndrome type 3
Reversed	0
HGVS	NC_000008.10:g.94821170G>T
CLNSRC	ClinVar
CLNACC	RCV000050189.1,

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