rs1057517475

Orientation

plus

Stabilized

plus

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

Make rs1057517475(-;T)

Make rs1057517475(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

61393975

Gene

TMEM216

is a	snp
is	mentioned by
dbSNP	rs1057517475
dbSNP (classic)	rs1057517475
ClinGen	rs1057517475
ebi	rs1057517475
HLI	rs1057517475
Exac	rs1057517475
Gnomad	rs1057517475
Varsome	rs1057517475
LitVar	rs1057517475
Map	rs1057517475
PheGenI	rs1057517475
Biobank	rs1057517475
1000 genomes	rs1057517475
hgdp	rs1057517475
ensembl	rs1057517475
geneview	rs1057517475
scholar	rs1057517475
google	rs1057517475
pharmgkb	rs1057517475
gwascentral	rs1057517475
openSNP	rs1057517475
23andMe	rs1057517475
SNPshot	rs1057517475
SNPdbe	rs1057517475
MSV3d	rs1057517475
GWAS Ctlg	rs1057517475

Max Magnitude

0

ClinVar
Risk	rs1057517475(T;T)
Alt	rs1057517475(T;T)
Reference	Rs1057517475(-;-)
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.61161447dupT
CLNSRC
CLNACC	RCV000410198.1, RCV000412190.1,