rs387907133

Orientation

plus

Stabilized

plus

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

Make rs387907133(C;T)

Make rs387907133(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

61368600

Gene

TMEM138

is a	snp
is	mentioned by
dbSNP	rs387907133
dbSNP (classic)	rs387907133
ClinGen	rs387907133
ebi	rs387907133
HLI	rs387907133
Exac	rs387907133
Gnomad	rs387907133
Varsome	rs387907133
LitVar	rs387907133
Map	rs387907133
PheGenI	rs387907133
Biobank	rs387907133
1000 genomes	rs387907133
hgdp	rs387907133
ensembl	rs387907133
geneview	rs387907133
scholar	rs387907133
google	rs387907133
pharmgkb	rs387907133
gwascentral	rs387907133
openSNP	rs387907133
23andMe	rs387907133
SNPshot	rs387907133
SNPdbe	rs387907133
MSV3d	rs387907133
GWAS Ctlg	rs387907133

Max Magnitude

0

ClinVar
Risk	rs387907133(T;T)
Alt	rs387907133(T;T)
Reference	Rs387907133(C;C)
Significance	Pathogenic
Disease	Joubert syndrome 16
Variation	info
Gene	TMEM138
CLNDBN	Joubert syndrome 16
Reversed	0
HGVS	NC_000011.9:g.61136072C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000024188.3,