rs386834181

Orientation

plus

Stabilized

plus

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

Make rs386834181(-;-)

Make rs386834181(-;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

93781745

Gene

TMEM67

is a	snp
is	mentioned by
dbSNP	rs386834181
dbSNP (classic)	rs386834181
ClinGen	rs386834181
ebi	rs386834181
HLI	rs386834181
Exac	rs386834181
Gnomad	rs386834181
Varsome	rs386834181
LitVar	rs386834181
Map	rs386834181
PheGenI	rs386834181
Biobank	rs386834181
1000 genomes	rs386834181
hgdp	rs386834181
ensembl	rs386834181
geneview	rs386834181
scholar	rs386834181
google	rs386834181
pharmgkb	rs386834181
gwascentral	rs386834181
openSNP	rs386834181
23andMe	rs386834181
SNPshot	rs386834181
SNPdbe	rs386834181
MSV3d	rs386834181
GWAS Ctlg	rs386834181

Max Magnitude

0

ClinVar
Risk	rs386834181(-;-)
Alt	rs386834181(-;-)
Reference	Rs386834181(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.94793973delG
CLNSRC	ClinVar
CLNACC	RCV000050176.1,

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