rs386834185

Orientation

plus

Stabilized

plus

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

Make rs386834185(C;C)

Make rs386834185(C;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

93787843

Gene

TMEM67

is a	snp
is	mentioned by
dbSNP	rs386834185
dbSNP (classic)	rs386834185
ClinGen	rs386834185
ebi	rs386834185
HLI	rs386834185
Exac	rs386834185
Gnomad	rs386834185
Varsome	rs386834185
LitVar	rs386834185
Map	rs386834185
PheGenI	rs386834185
Biobank	rs386834185
1000 genomes	rs386834185
hgdp	rs386834185
ensembl	rs386834185
geneview	rs386834185
scholar	rs386834185
google	rs386834185
pharmgkb	rs386834185
gwascentral	rs386834185
openSNP	rs386834185
23andMe	rs386834185
SNPshot	rs386834185
SNPdbe	rs386834185
MSV3d	rs386834185
GWAS Ctlg	rs386834185

Max Magnitude

0

ClinVar
Risk	rs386834185(C;C) rs386834185(T;T)
Alt	rs386834185(C;C) rs386834185(T;T)
Reference	Rs386834185(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.94800071G>C
CLNSRC	ClinVar
CLNACC	RCV000050180.1,

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