rs1057517516

Orientation

plus

Stabilized

plus

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

Make rs1057517516(-;-)

Make rs1057517516(-;T)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

61393975

Gene

TMEM216

is a	snp
is	mentioned by
dbSNP	rs1057517516
dbSNP (classic)	rs1057517516
ClinGen	rs1057517516
ebi	rs1057517516
HLI	rs1057517516
Exac	rs1057517516
Gnomad	rs1057517516
Varsome	rs1057517516
LitVar	rs1057517516
Map	rs1057517516
PheGenI	rs1057517516
Biobank	rs1057517516
1000 genomes	rs1057517516
hgdp	rs1057517516
ensembl	rs1057517516
geneview	rs1057517516
scholar	rs1057517516
google	rs1057517516
pharmgkb	rs1057517516
gwascentral	rs1057517516
openSNP	rs1057517516
23andMe	rs1057517516
SNPshot	rs1057517516
SNPdbe	rs1057517516
MSV3d	rs1057517516
GWAS Ctlg	rs1057517516

Max Magnitude

0

ClinVar
Risk	rs1057517516(-;-)
Alt	rs1057517516(-;-)
Reference	Rs1057517516(T;T)
Significance	Probable-Pathogenic
Disease	Joubert syndrome 2 Meckel syndrome type 2
Variation	info
Gene	TMEM216
CLNDBN	Joubert syndrome 2 Meckel syndrome type 2
Reversed	0
HGVS	NC_000011.9:g.61161447delT
CLNSRC
CLNACC	RCV000410191.1, RCV000412251.1,