rs386834206

Orientation

plus

Stabilized

plus

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

Make rs386834206(C;T)

Make rs386834206(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

93780612

Gene

TMEM67

is a	snp
is	mentioned by
dbSNP	rs386834206
dbSNP (classic)	rs386834206
ClinGen	rs386834206
ebi	rs386834206
HLI	rs386834206
Exac	rs386834206
Gnomad	rs386834206
Varsome	rs386834206
LitVar	rs386834206
Map	rs386834206
PheGenI	rs386834206
Biobank	rs386834206
1000 genomes	rs386834206
hgdp	rs386834206
ensembl	rs386834206
geneview	rs386834206
scholar	rs386834206
google	rs386834206
pharmgkb	rs386834206
gwascentral	rs386834206
openSNP	rs386834206
23andMe	rs386834206
SNPshot	rs386834206
SNPdbe	rs386834206
MSV3d	rs386834206
GWAS Ctlg	rs386834206

Max Magnitude

0

ClinVar
Risk	rs386834206(T;T)
Alt	rs386834206(T;T)
Reference	Rs386834206(C;C)
Significance	Probable-Pathogenic
Disease	Meckel syndrome type 3
Variation	info
Gene	TMEM67
CLNDBN	Meckel syndrome type 3
Reversed	0
HGVS	NC_000008.10:g.94792840C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000050201.1,

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