rs137853108

Orientation

plus

Stabilized

plus

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

Make rs137853108(A;T)

Make rs137853108(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

93765617

Gene

TMEM67

is a	snp
is	mentioned by
dbSNP	rs137853108
dbSNP (classic)	rs137853108
ClinGen	rs137853108
ebi	rs137853108
HLI	rs137853108
Exac	rs137853108
Gnomad	rs137853108
Varsome	rs137853108
LitVar	rs137853108
Map	rs137853108
PheGenI	rs137853108
Biobank	rs137853108
1000 genomes	rs137853108
hgdp	rs137853108
ensembl	rs137853108
geneview	rs137853108
scholar	rs137853108
google	rs137853108
pharmgkb	rs137853108
gwascentral	rs137853108
openSNP	rs137853108
23andMe	rs137853108
SNPshot	rs137853108
SNPdbe	rs137853108
MSV3d	rs137853108
GWAS Ctlg	rs137853108

Max Magnitude

0

OMIM	609884
Desc
Variant	0011
Related	also

ClinVar
Risk	rs137853108(T;T)
Alt	rs137853108(T;T)
Reference	Rs137853108(A;A)
Significance	Pathogenic
Disease	Meckel syndrome type 3 Joubert syndrome 6 TMEM67-Related Disorders Joubert syndrome Meckel-Gruber syndrome not provided
Variation	info
Gene	TMEM67
CLNDBN	Meckel syndrome type 3 Joubert syndrome 6 TMEM67-Related Disorders Joubert syndrome Meckel-Gruber syndrome not provided
Reversed	0
HGVS	NC_000008.10:g.94777845A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001442.4, RCV000001443.7, RCV000334857.1, RCV000468558.1, RCV000494327.1,