rs386834182

Orientation

plus

Stabilized

plus

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

Make rs386834182(A;A)

Make rs386834182(A;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

93786253

Gene

TMEM67

is a	snp
is	mentioned by
dbSNP	rs386834182
dbSNP (classic)	rs386834182
ClinGen	rs386834182
ebi	rs386834182
HLI	rs386834182
Exac	rs386834182
Gnomad	rs386834182
Varsome	rs386834182
LitVar	rs386834182
Map	rs386834182
PheGenI	rs386834182
Biobank	rs386834182
1000 genomes	rs386834182
hgdp	rs386834182
ensembl	rs386834182
geneview	rs386834182
scholar	rs386834182
google	rs386834182
pharmgkb	rs386834182
gwascentral	rs386834182
openSNP	rs386834182
23andMe	rs386834182
SNPshot	rs386834182
SNPdbe	rs386834182
MSV3d	rs386834182
GWAS Ctlg	rs386834182

Max Magnitude

0

ClinVar
Risk	rs386834182(A;A)
Alt	rs386834182(A;A)
Reference	Rs386834182(G;G)
Significance	Probable-Pathogenic
Disease	Meckel syndrome type 3 not provided
Variation	info
Gene	TMEM67
CLNDBN	Meckel syndrome type 3 not provided
Reversed	0
HGVS	NC_000008.10:g.94798481G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000050177.1, RCV000430117.1,

[PMID 17377820] Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.

[PMID 17397051] Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.

[PMID 19466712] Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?

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