rs386834201

Orientation

plus

Stabilized

plus

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

Make rs386834201(A;A)

Make rs386834201(A;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

93758557

Gene

TMEM67

is a	snp
is	mentioned by
dbSNP	rs386834201
dbSNP (classic)	rs386834201
ClinGen	rs386834201
ebi	rs386834201
HLI	rs386834201
Exac	rs386834201
Gnomad	rs386834201
Varsome	rs386834201
LitVar	rs386834201
Map	rs386834201
PheGenI	rs386834201
Biobank	rs386834201
1000 genomes	rs386834201
hgdp	rs386834201
ensembl	rs386834201
geneview	rs386834201
scholar	rs386834201
google	rs386834201
pharmgkb	rs386834201
gwascentral	rs386834201
openSNP	rs386834201
23andMe	rs386834201
SNPshot	rs386834201
SNPdbe	rs386834201
MSV3d	rs386834201
GWAS Ctlg	rs386834201

Max Magnitude

0

ClinVar
Risk	rs386834201(A;A)
Alt	rs386834201(A;A)
Reference	Rs386834201(T;T)
Significance	Probable-Pathogenic
Disease	Meckel syndrome type 3
Variation	info
Gene	TMEM67
CLNDBN	Meckel syndrome type 3
Reversed	0
HGVS	NC_000008.10:g.94770785T>A
CLNSRC	ClinVar
CLNACC	RCV000050195.1,

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