rs1057517528

Orientation

plus

Stabilized

plus

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

Make rs1057517528(A;G)

Make rs1057517528(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

61393229

Gene

TMEM216

is a	snp
is	mentioned by
dbSNP	rs1057517528
dbSNP (classic)	rs1057517528
ClinGen	rs1057517528
ebi	rs1057517528
HLI	rs1057517528
Exac	rs1057517528
Gnomad	rs1057517528
Varsome	rs1057517528
LitVar	rs1057517528
Map	rs1057517528
PheGenI	rs1057517528
Biobank	rs1057517528
1000 genomes	rs1057517528
hgdp	rs1057517528
ensembl	rs1057517528
geneview	rs1057517528
scholar	rs1057517528
google	rs1057517528
pharmgkb	rs1057517528
gwascentral	rs1057517528
openSNP	rs1057517528
23andMe	rs1057517528
SNPshot	rs1057517528
SNPdbe	rs1057517528
MSV3d	rs1057517528
GWAS Ctlg	rs1057517528

Max Magnitude

0

ClinVar
Risk	rs1057517528(G;G)
Alt	rs1057517528(G;G)
Reference	Rs1057517528(A;A)
Significance	Probable-Pathogenic
Disease	Meckel syndrome type 2 Joubert syndrome 2
Variation	info
Gene	TMEM216
CLNDBN	Meckel syndrome type 2 Joubert syndrome 2
Reversed	0
HGVS	NC_000011.9:g.61160701A>G
CLNSRC
CLNACC	RCV000409368.1, RCV000410496.1,