rs386834199

Orientation

plus

Stabilized

plus

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

Make rs386834199(C;C)

Make rs386834199(C;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

93815437

Gene

TMEM67

is a	snp
is	mentioned by
dbSNP	rs386834199
dbSNP (classic)	rs386834199
ClinGen	rs386834199
ebi	rs386834199
HLI	rs386834199
Exac	rs386834199
Gnomad	rs386834199
Varsome	rs386834199
LitVar	rs386834199
Map	rs386834199
PheGenI	rs386834199
Biobank	rs386834199
1000 genomes	rs386834199
hgdp	rs386834199
ensembl	rs386834199
geneview	rs386834199
scholar	rs386834199
google	rs386834199
pharmgkb	rs386834199
gwascentral	rs386834199
openSNP	rs386834199
23andMe	rs386834199
SNPshot	rs386834199
SNPdbe	rs386834199
MSV3d	rs386834199
GWAS Ctlg	rs386834199

Max Magnitude

0

ClinVar
Risk	rs386834199(C;C)
Alt	rs386834199(C;C)
Reference	Rs386834199(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.94827665T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000050193.1,

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

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