rs386834200

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(AC;AC)	0	common in clinvar
(CA;CA)	0	common in clinvar

Make rs386834200(-;-)

Make rs386834200(-;AC)

Reference

GRCh38 38.1/141

Chromosome

8

Position

93758553

Gene

TMEM67

is a	snp
is	mentioned by
dbSNP	rs386834200
dbSNP (classic)	rs386834200
ClinGen	rs386834200
ebi	rs386834200
HLI	rs386834200
Exac	rs386834200
Gnomad	rs386834200
Varsome	rs386834200
LitVar	rs386834200
Map	rs386834200
PheGenI	rs386834200
Biobank	rs386834200
1000 genomes	rs386834200
hgdp	rs386834200
ensembl	rs386834200
geneview	rs386834200
scholar	rs386834200
google	rs386834200
pharmgkb	rs386834200
gwascentral	rs386834200
openSNP	rs386834200
23andMe	rs386834200
SNPshot	rs386834200
SNPdbe	rs386834200
MSV3d	rs386834200
GWAS Ctlg	rs386834200

Max Magnitude

0

ClinVar
Risk	rs386834200(-;-)
Alt	rs386834200(-;-)
Reference	Rs386834200(CA;CA)
Significance	Other
Disease	Meckel syndrome type 3
Variation	info
Gene	TMEM67
CLNDBN	Meckel syndrome type 3
Reversed	0
HGVS	NC_000008.10:g.94770781_94770782delAC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001430.6,

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