rs541666319

Orientation

plus

Stabilized

plus

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

Make rs541666319(C;C)

Make rs541666319(C;T)

Reference

GRCh38.p2 38.2/146

Chromosome

11

Position

61393963

Gene

TMEM216

is a	snp
is	mentioned by
dbSNP	rs541666319
dbSNP (classic)	rs541666319
ClinGen	rs541666319
ebi	rs541666319
HLI	rs541666319
Exac	rs541666319
Gnomad	rs541666319
Varsome	rs541666319
LitVar	rs541666319
Map	rs541666319
PheGenI	rs541666319
Biobank	rs541666319
1000 genomes	rs541666319
hgdp	rs541666319
ensembl	rs541666319
geneview	rs541666319
scholar	rs541666319
google	rs541666319
pharmgkb	rs541666319
gwascentral	rs541666319
openSNP	rs541666319
23andMe	rs541666319
SNPshot	rs541666319
SNPdbe	rs541666319
MSV3d	rs541666319
GWAS Ctlg	rs541666319

Max Magnitude

0

ClinVar
Risk	rs541666319(C;C)
Alt	rs541666319(C;C)
Reference	Rs541666319(T;T)
Significance	Probable-Pathogenic
Disease	Joubert syndrome 2
Variation	info
Gene	TMEM216
CLNDBN	Joubert syndrome 2
Reversed	0
HGVS	NC_000011.9:g.61161435T>C
CLNSRC
CLNACC	RCV000201571.1,