rs386834204

Orientation

plus

Stabilized

plus

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

Make rs386834204(-;-)

Make rs386834204(-;A)

Reference

GRCh38 38.1/141

Chromosome

8

Position

93765643

Gene

TMEM67

is a	snp
is	mentioned by
dbSNP	rs386834204
dbSNP (classic)	rs386834204
ClinGen	rs386834204
ebi	rs386834204
HLI	rs386834204
Exac	rs386834204
Gnomad	rs386834204
Varsome	rs386834204
LitVar	rs386834204
Map	rs386834204
PheGenI	rs386834204
Biobank	rs386834204
1000 genomes	rs386834204
hgdp	rs386834204
ensembl	rs386834204
geneview	rs386834204
scholar	rs386834204
google	rs386834204
pharmgkb	rs386834204
gwascentral	rs386834204
openSNP	rs386834204
23andMe	rs386834204
SNPshot	rs386834204
SNPdbe	rs386834204
MSV3d	rs386834204
GWAS Ctlg	rs386834204

Max Magnitude

0

ClinVar
Risk	rs386834204(-;-)
Alt	rs386834204(-;-)
Reference	Rs386834204(A;A)
Significance	Other
Disease	Meckel syndrome type 3
Variation	info
Gene	TMEM67
CLNDBN	Meckel syndrome type 3
Reversed	0
HGVS	NC_000008.10:g.94777871delA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001431.6,

[PMID 16415887] The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.