rs386834184

Orientation

plus

Stabilized

plus

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

Make rs386834184(C;C)

Make rs386834184(C;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

93786270

Gene

TMEM67

is a	snp
is	mentioned by
dbSNP	rs386834184
dbSNP (classic)	rs386834184
ClinGen	rs386834184
ebi	rs386834184
HLI	rs386834184
Exac	rs386834184
Gnomad	rs386834184
Varsome	rs386834184
LitVar	rs386834184
Map	rs386834184
PheGenI	rs386834184
Biobank	rs386834184
1000 genomes	rs386834184
hgdp	rs386834184
ensembl	rs386834184
geneview	rs386834184
scholar	rs386834184
google	rs386834184
pharmgkb	rs386834184
gwascentral	rs386834184
openSNP	rs386834184
23andMe	rs386834184
SNPshot	rs386834184
SNPdbe	rs386834184
MSV3d	rs386834184
GWAS Ctlg	rs386834184

Max Magnitude

0

ClinVar
Risk	rs386834184(C;C)
Alt	rs386834184(C;C)
Reference	Rs386834184(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.94798498G>C
CLNSRC	ClinVar
CLNACC	RCV000050179.1,

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